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What are the treatments for Lymphocytic infiltrate of Jessner ?
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How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, systemic steroids, cryotherapy, methotrexate, thalidomide, and/or oral auranofin. There has been one case report describing treatment with a pulsed-dye laser that worked effectively in this patient after a single treatment without adverse side effects. This and further information on treatment of lymphocytic infiltrate of Jessner is available at the following link to the eMedicine online reference Web site: http://emedicine.medscape.com/article/1098654-treatment
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Lymphocytic infiltrate of Jessner
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What is (are) Pontocerebellar hypoplasia type 1 ?
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Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness. Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1. The condition is inherited in an autosomal recessive manner. Most children with PCH1 live only into infancy.
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Pontocerebellar hypoplasia type 1
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What are the symptoms of Pontocerebellar hypoplasia type 1 ?
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What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral cortical atrophy 90% Hypertonia 90% Limitation of joint mobility 90% Microcephaly 90% Seizures 90% Deviation of finger 50% Abnormality of the foot - Ataxia - Autosomal recessive inheritance - Basal ganglia gliosis - Cerebellar hypoplasia - Congenital contracture - Congenital onset - Degeneration of anterior horn cells - EMG: neuropathic changes - Fasciculations - Feeding difficulties in infancy - Hyperreflexia - Hypoplasia of the pons - Hypoplasia of the ventral pons - Intellectual disability - Muscle weakness - Muscular hypotonia - Neuronal loss in basal ganglia - Progressive - Respiratory insufficiency - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Pontocerebellar hypoplasia type 1
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What causes Pontocerebellar hypoplasia type 1 ?
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What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1. In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2. TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.
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Pontocerebellar hypoplasia type 1
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Is Pontocerebellar hypoplasia type 1 inherited ?
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How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. This means that parents who are carriers of this condition have a 25% chance of having an affected child.
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Pontocerebellar hypoplasia type 1
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What are the treatments for Pontocerebellar hypoplasia type 1 ?
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How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive.
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Pontocerebellar hypoplasia type 1
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What is (are) Limbic encephalitis ?
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Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.
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Limbic encephalitis
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What are the symptoms of Limbic encephalitis ?
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What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures. Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia. The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months. It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis.
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Limbic encephalitis
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What causes Limbic encephalitis ?
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What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis. Seminoma are present in 25% of patients. At a lower rate, nearly any other tumor may be associated. Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders. The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders.
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Limbic encephalitis
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What are the treatments for Limbic encephalitis ?
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What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. When a tumor is found in association with a possible paraneoplastic disorder, removal of the tumor and immunotherapy may be offered.
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Limbic encephalitis
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What is (are) Microcystic adnexal carcinoma ?
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Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well. The average age of diagnosis is 56. This tumor is often first noticed as a bump or yellowish spot in the skin. Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery.
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Microcystic adnexal carcinoma
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What are the symptoms of Microcystic adnexal carcinoma ?
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What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can cause discomfort, numbness, tingling (paresthesia), burning, or itching.
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Microcystic adnexal carcinoma
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What are the treatments for Microcystic adnexal carcinoma ?
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Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective. Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done. However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor.
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Microcystic adnexal carcinoma
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What is (are) Charcot-Marie-Tooth disease type 1A ?
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Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications.
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Charcot-Marie-Tooth disease type 1A
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What are the symptoms of Charcot-Marie-Tooth disease type 1A ?
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What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. Nerve conduction velocities (NCVs) tend to slow progressively over the first two to six years of life, but they appear to remain relatively stable throughout adulthood. Worsening of signs and symptoms tends to be slow in the second to fourth decades of life. It remains to be confirmed whether, and to what extent, there is clinical and electrophysiological disease progression in affected adults; two studies of adult with CMT1A have shown conflicting results. Authors of one study reported disease progression over time (23 years on average), while authors of another study found that both patients and controls (individuals without the condition) had a similar decline of strength and of electrophysiological findings. The findings in the latter study suggested that the decline in adulthood in affected individuals may reflect a process of normal aging rather than on-going active disease. Any major changes in the pace of progression may warrant consideration of additional acquired, or possibly independently inherited forms, of neuromuscular diseases. The severity of signs and symptoms of CMT1A can vary greatly among affected individuals. Individuals who have questions about their own specific signs and symptoms and how they may relate to progression of CMT should speak with their health care provider. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hearing impairment - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Kyphoscoliosis - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Slow progression - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Charcot-Marie-Tooth disease type 1A
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What is (are) Aicardi-Goutieres syndrome type 5 ?
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Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
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Aicardi-Goutieres syndrome type 5
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What are the symptoms of Aicardi-Goutieres syndrome type 5 ?
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What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Holoprosencephaly 90% Hypertonia 90% Porencephaly 90% Cleft eyelid 50% Hemiplegia/hemiparesis 50% Microcephaly 7.5% Plagiocephaly 7.5% Ptosis 7.5% Seizures 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Chilblain lesions - Feeding difficulties in infancy - Leukodystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Aicardi-Goutieres syndrome type 5
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What is (are) Urea cycle disorders ?
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A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.
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Urea cycle disorders
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What is (are) Juvenile ossifying fibroma ?
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Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a "fibro-osseous neoplasm" because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. Other symptoms such as exophthalmos or nasal blockage can rarely be associated with the tumor depending on its exact location. In some cases, the condition can be particularly aggressive with rapid growth and significant facial disfigurement. Although the condition can affect people of all ages, it is most commonly diagnosed between the ages of 5 and 15. The exact underlying cause is currently unknown; however, most cases occur sporadically in people with no family history of the condition. JOF is usually treated with surgery. Because the recurrence rate of JOF ranges from 30% to 58%, continued follow-up is essential.
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Juvenile ossifying fibroma
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What are the symptoms of Epilepsy occipital calcifications ?
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What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the cerebral vasculature 90% Anemia 90% Cerebral calcification 90% Malabsorption 90% Seizures 90% Visual impairment 90% Cognitive impairment 7.5% Celiac disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Epilepsy occipital calcifications
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What is (are) Febrile Ulceronecrotic Mucha-Habermann disease ?
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Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.
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Febrile Ulceronecrotic Mucha-Habermann disease
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What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ?
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What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associated with extensive, painful loss of skin tissue. The skin lesions can become infected which may cause pus and a putrid odor. The rate of progression from PLEVA to FUMHD varies among reports but may be days to weeks. Some cases go straight to FUMHD rather than progress from PLEVA. FUMHD is often associated with high fever (up to 104F) that may be persistant or come and go. Other symptoms may include feeling ill, sore throat, congestion, muscle soreness or pain, joint pain, diarrhea, central nervous system symptoms, abdominal pain, enlarged spleen, arthritis, megaloblastic anemia, interstitial pneumonitis (scarring or thickening of the lungs), lymphocytic (viral) myocarditis, and sepsis. FUMHD can become life threatening.
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Febrile Ulceronecrotic Mucha-Habermann disease
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What causes Febrile Ulceronecrotic Mucha-Habermann disease ?
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What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been no consistent finding so far. There is some suggestion that FUMHD may be a type of clonal T-cell disorder. Clonal means that all the T-cells were derived from the same cell. T cells are a type of white blood cell (lymphocytes). They make up part of the immune system. T cells help the body fight diseases or harmful substances.
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Febrile Ulceronecrotic Mucha-Habermann disease
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How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ?
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How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a health care provider: Epidermis - Findings include focal confluent parakeratosis, spongiosis, dyskeratosis, mild to moderate acanthosis, vacuolization of basal layer with necrotic keratino-cytes, occasional intraepidermal vesicles, extensive epidermal necrosis. In advanced disease findings may also include extension of infiltrate into epidermis, invasion of erythrocytes, widespread epidermal necrosis, and nuclear debris in necrotic areas Dermis Swelling, moderately dense lymphohistiocytic perivascular inflammatory infiltrate usually without atypia, extravasation of lymphocytes and erythrocytes with epidermal invasion, subepidermal vesicles in later lesions, dermal sclerosis in older lesions Vascular changes Dilation and engorgement of blood vessels in papillary dermis with endothelial proliferation, vascular congestion, occlusion, dermal hemorrhage, and extravasation of erythrocytes Vasculitis Fibronoid necrosis of vessel walls with leukocytoclassic vasculitis In the majority of patients, blood tests indicate leukocytosis, anemia, elevated C-reactive protein, and elevated liver enzymes. An association of FUMHD with elevated blood levels of TNF-alpha has also been described.
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Febrile Ulceronecrotic Mucha-Habermann disease
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What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ?
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How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. The case reports describe treatment with systemic steroids, methotrexate, antibiotics, dapsone, cyclosporine, psoralen and ultraviolet A (PUVA), ultraviolet B (UVB), unspecified ultraviolet receptor, acyclovir, immunoglobulins, and 4,4-diaminodiphenylsulphone (DDS). Again the efficacy of these therapies are not known. Acyclovir was prescribed in cases where varicella was initially suspected. None of these cases turned out to be associated with herpes simplex or varicella-zoster virus infection. The benefit of acyclovir therapy in people with FUMHD is questionable. Systemic steroids have been commonly utilized among reported cases (27 of 40 cases), with only one report of a positive effect. Methotrexate has been used in 15 patients. It induced rapid remissions and was successful in cases that did not respond to other therapies. Still four patients died despite methotrexate theapy. It is possible this was due to its late institution. Debridement and skin grafting was successful in one case, but the patient was left with considerable scaring. In advanced disease, therapy is also aimed at stabilizing the patient. Intensive care treatment of infection and maintenance of the patients general condition is vital. The state of these patients is similar to what is seen in patients with severe burns. Thus, patients with FUMHD may benefit from the same supportive services that burn victims receive. Treatment with tumor necrosis factor (TNF)-alpha inhibitors (such as infliximab and etanercept) has been suggested as a first-line option in the management of FUMHD because elevated levels of serum TNF-alpha have been reported in this disease However, further studies may be required to establish this approach to treatment. More detailed information about treatment options for FUMHD can be accessed through the DermNet NZ web site.
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Febrile Ulceronecrotic Mucha-Habermann disease
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What is (are) Chromosome 8q24.3 deletion syndrome ?
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Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
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Chromosome 8q24.3 deletion syndrome
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What are the symptoms of Chromosome 8q24.3 deletion syndrome ?
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What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa - Autosomal dominant inheritance - Cerebral atrophy - Clinodactyly - Coloboma - Congenital onset - Feeding difficulties - Hemivertebrae - Hip dislocation - Long philtrum - Microcephaly - Narrow forehead - Phenotypic variability - Renal agenesis - Renal cyst - Renal hypoplasia - Scoliosis - Short 5th finger - Short neck - Short nose - Short stature - Vertebral fusion - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Chromosome 8q24.3 deletion syndrome
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What are the symptoms of Dwarfism tall vertebrae ?
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What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - Increased vertebral height - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Dwarfism tall vertebrae
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What is (are) L-2-hydroxyglutaric aciduria ?
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L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
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L-2-hydroxyglutaric aciduria
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What are the symptoms of L-2-hydroxyglutaric aciduria ?
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What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Encephalitis 90% Seizures 90% Abnormality of extrapyramidal motor function 50% Aplasia/Hypoplasia of the cerebellum 50% Behavioral abnormality 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Neoplasm of the nervous system 50% Neurological speech impairment 7.5% Abnormal pyramidal signs - Autosomal recessive inheritance - Cerebellar atrophy - Corpus callosum atrophy - Developmental regression - Dysphasia - Gliosis - Global brain atrophy - Hearing impairment - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - L-2-hydroxyglutaric acidemia - L-2-hydroxyglutaric aciduria - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Nystagmus - Optic atrophy - Severe demyelination of the white matter - Spastic tetraparesis - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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L-2-hydroxyglutaric aciduria
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What is (are) Fatal familial insomnia ?
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Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.
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Fatal familial insomnia
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What are the symptoms of Fatal familial insomnia ?
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What are the signs and symptoms of Fatal familial insomnia? The first signs and symptoms of fatal familial insomnia (FFI) generally develop in midlife (40s to 50s) and may include insomnia that worsens over time and vivid dreams when sleep is achieved. As the disease progresses and disturbs the autonomic nervous system (the part of the nervous system that controls involuntary actions), affected people may experience: Elevated blood pressure Episodes of hyperventilation Excessive tearing Sexual and/or urinary tract dysfunction Change in basal body temperature Decreased ability to gaze upwards Jerky eye movements Double vision Dysarthria Many people also develop ataxia (the inability to coordinate movements) which is characterized by a jerky, unsteady, to-and-fro motion of the middle of the body (trunk); an unsteady gait (walking style); and/or uncoordinated movements of the arms and legs. Advancing disease leads to more severe insomnia, worsening ataxia, and confusion. Ultimately, FFI is fatal within a few months to a few years after the development of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Fatal familial insomnia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Apnea - Ataxia - Autosomal dominant inheritance - Childhood onset - Constipation - Dementia - Diplopia - Dysarthria - Dysautonomia - Dysphagia - Fever - Hyperhidrosis - Insomnia - Myoclonus - Neuronal loss in central nervous system - Urinary retention - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Fatal familial insomnia
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What causes Fatal familial insomnia ?
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What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. Mutations in the PRNP gene result in an abnormal form of the protein that clumps together and accumulates in the brain. This leads to the destruction of neurons (brain cells) and creates tiny holes in the brain, which give the brain a "sponge-like" appearance when viewed under a microscope. The progressive loss of neurons leads to the many signs and symptoms of FFI.
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Fatal familial insomnia
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Is Fatal familial insomnia inherited ?
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How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
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Fatal familial insomnia
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How to diagnose Fatal familial insomnia ?
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Is genetic testing available for fatal familial insomnia? Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is fatal familial insomnia diagnosed? A diagnosis of genetic prion disease is typically made based on a combination of the following: Various, adult-onset neurologic signs and symptoms Neuropathologic findings (diagnosis made by examining cells and tissues of the brain under a microscope) A family history consistent with autosomal dominant inheritance PRNP disease-causing mutation The PRNP gene is the only gene in which changes (mutations) are known to cause genetic prion diseases, including fatal familial insomnia. Finding a mutation in this gene is necessary to confirm a diagnosis in a person with symptoms. Testing of the PRNP gene may not detect all disease-causing mutations, so if a mutation is not found, a person may still have the disease. Other studies such as EEG, brain imaging, or examining cerebrospinal fluid may be helpful in supporting a diagnosis, but none of these can diagnose a genetic prion disease on its own.
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Fatal familial insomnia
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What are the treatments for Fatal familial insomnia ?
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How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some of which have shown promising results in animal studies.
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Fatal familial insomnia
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What is (are) Oculocutaneous albinism ?
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Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.
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Oculocutaneous albinism
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What are the symptoms of Oculocutaneous albinism ?
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What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Astigmatism 50% Hypermetropia 50% Myopia 50% Photophobia 50% Strabismus 50% Neoplasm of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Oculocutaneous albinism
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What are the treatments for Oculocutaneous albinism ?
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What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. Glasses may be worn to reduce sensitivity to bright light or to improve vision. Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus).
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Oculocutaneous albinism
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What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ?
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What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
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What is (are) Northern epilepsy ?
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Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
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Northern epilepsy
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What are the symptoms of Northern epilepsy ?
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What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Northern epilepsy
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What is (are) Erythropoietic protoporphyria ?
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Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.
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Erythropoietic protoporphyria
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What are the symptoms of Erythropoietic protoporphyria ?
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What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Urticaria 90% Biliary tract abnormality 7.5% Cirrhosis 7.5% Eczema 7.5% Edema 7.5% Microcytic anemia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Cholelithiasis - Erythema - Hemolytic anemia - Hepatic failure - Hypertriglyceridemia - Pruritus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Erythropoietic protoporphyria
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What causes Erythropoietic protoporphyria ?
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What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene.
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Erythropoietic protoporphyria
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Is Erythropoietic protoporphyria inherited ?
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How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% (1 in 4) chance to be unaffected and not be a carrier
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Erythropoietic protoporphyria
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What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?
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What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
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What are the symptoms of X-linked lissencephaly with abnormal genitalia ?
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What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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X-linked lissencephaly with abnormal genitalia
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What are the symptoms of Nijmegen breakage syndrome ?
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What are the signs and symptoms of Nijmegen breakage syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nijmegen breakage syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal immunoglobulin level 90% Abnormal nasal morphology 90% Abnormality of chromosome stability 90% Abnormality of the upper urinary tract 90% Attention deficit hyperactivity disorder 90% Cognitive impairment 90% Convex nasal ridge 90% Decreased body weight 90% Deep philtrum 90% Depressed nasal bridge 90% Hearing abnormality 90% Hemolytic anemia 90% Low anterior hairline 90% Malabsorption 90% Microcephaly 90% Recurrent respiratory infections 90% Short neck 90% Short stature 90% Sinusitis 90% Sloping forehead 90% Thrombocytopenia 90% Upslanted palpebral fissure 90% Urogenital fistula 90% Aplasia/Hypoplasia of the thymus 50% Abnormality of neuronal migration 7.5% Acute leukemia 7.5% Cleft palate 7.5% Cutaneous photosensitivity 7.5% Freckling 7.5% Glioma 7.5% Lymphoma 7.5% Medulloblastoma 7.5% Muscle weakness 7.5% Non-midline cleft lip 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Anal atresia - Anal stenosis - Autoimmune hemolytic anemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Cafe-au-lait spot - Choanal atresia - Cleft upper lip - Diarrhea - Dysgammaglobulinemia - Hydronephrosis - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Long nose - Macrotia - Malar prominence - Mastoiditis - Neurodegeneration - Otitis media - Primary ovarian failure - Progressive vitiligo - Recurrent bronchitis - Recurrent infection of the gastrointestinal tract - Recurrent pneumonia - Recurrent urinary tract infections - Rhabdomyosarcoma - T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Nijmegen breakage syndrome
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What is (are) Benign multicystic peritoneal mesothelioma ?
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Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown.
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Benign multicystic peritoneal mesothelioma
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What are the treatments for Benign multicystic peritoneal mesothelioma ?
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How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign.
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Benign multicystic peritoneal mesothelioma
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What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ?
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Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.
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Microcephalic osteodysplastic primordial dwarfism type 2
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What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ?
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What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Micromelia 90% Reduced number of teeth 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the eyebrow 50% Cafe-au-lait spot 50% Dry skin 50% Full cheeks 50% Hypopigmented skin patches 50% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Microdontia 50% Scoliosis 50% Sensorineural hearing impairment 50% Truncal obesity 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Attention deficit hyperactivity disorder 7.5% Blepharophimosis 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Cone-shaped epiphysis 7.5% Ivory epiphyses 7.5% Laryngomalacia 7.5% Long clavicles 7.5% Patent ductus arteriosus 7.5% Precocious puberty 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Straight clavicles 7.5% Thin clavicles 7.5% Tracheal stenosis 7.5% Ventriculomegaly 7.5% Distal symphalangism 5% Hypoplastic scapulae 5% Large sella turcica 5% Limited elbow extension 5% Narrow chest 5% Short middle phalanx of finger 5% Autosomal recessive inheritance - Cerebral aneurysm - Coxa vara - Disproportionate short stature - Flared metaphysis - High pitched voice - Hypermetropia - Hypoplasia of dental enamel - Hypoplastic iliac wing - Hypospadias - Intellectual disability - Microtia - Moyamoya phenomenon - Narrow pelvis bone - Postnatal growth retardation - Prominent nasal bridge - Prominent nose - Proximal femoral epiphysiolysis - Pseudoepiphyses of the metacarpals - Radial bowing - Retrognathia - Short 1st metacarpal - Short distal phalanx of finger - Slender long bone - Sloping forehead - Sparse scalp hair - Tibial bowing - Type II diabetes mellitus - Ulnar bowing - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Microcephalic osteodysplastic primordial dwarfism type 2
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What are the symptoms of Chromosome 6q25 microdeletion syndrome ?
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What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the corpus callosum 50% Epicanthus 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Plagiocephaly 50% Short stature 50% Wide nasal bridge 50% Abnormality of the genital system 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Chromosome 6q25 microdeletion syndrome
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What is (are) Notalgia paresthetica ?
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Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). There are no signs on the skin except for signs of chronic scratching and rubbing. Amyloid deposits (a collection of a specific type of protein) may be found in skin biopsies, but this is thought to be a secondary event. The cause of the itch in notalgia paresthetica may be due to the compression of spinal nerves by bones or muscles as the nerves emerge through the vertebrae to the back muscles. Sometimes degenerative changes in the area of the vertebrae that innervate the affected back muscles can be seen, but not always. Symptoms of notalgia paresthetica may respond to topical capsaicin treatment.
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Notalgia paresthetica
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What are the treatments for Notalgia paresthetica ?
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How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
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Notalgia paresthetica
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What are the symptoms of Preaxial polydactyly type 4 ?
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What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Preaxial polydactyly type 4
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What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ?
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What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the ribs 90% Low-set, posteriorly rotated ears 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Vertebral segmentation defect 90% Abnormality of the antitragus 50% Aplasia/Hypoplasia of the tongue 50% Arachnodactyly 50% Choanal atresia 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Joint hypermobility 50% Overfolded helix 50% Polyhydramnios 50% Premature birth 50% Wide nasal bridge 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Imperforate oropharynx-costo vetebral anomalies
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What are the symptoms of WT limb blood syndrome ?
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What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anemia 90% Aplasia/Hypoplasia of the thumb 90% Abnormality of leukocytes 50% Abnormality of the ulna 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Elbow dislocation 50% Lymphoma 50% Thrombocytopenia 50% Abnormality of the wrist 7.5% Brachydactyly syndrome 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Single transverse palmar crease 7.5% Absent thumb - Autosomal dominant inheritance - Hypoplastic anemia - Irregular hyperpigmentation - Joint contracture of the 5th finger - Leukemia - Pancytopenia - Radioulnar synostosis - Retrognathia - Sensorineural hearing impairment - Short phalanx of finger - Short thumb - Ulnar deviation of the 3rd finger - Ulnar deviation of thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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WT limb blood syndrome
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What are the symptoms of Mousa Al din Al Nassar syndrome ?
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What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Hypertonia 90% Incoordination 90% Myopia 90% Aplasia/Hypoplasia of the cerebellum 50% Decreased antibody level in blood 50% EMG abnormality 50% Gait disturbance 50% Hemiplegia/hemiparesis 50% Optic atrophy 50% Autosomal recessive inheritance - Congenital cataract - Spastic ataxia - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Mousa Al din Al Nassar syndrome
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What is (are) Enthesitis-related juvenile idiopathic arthritis ?
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Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
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Enthesitis-related juvenile idiopathic arthritis
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What are the symptoms of Enthesitis-related juvenile idiopathic arthritis ?
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What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Abnormality of the teeth 50% Cartilage destruction 50% Enthesitis 50% Abnormal tendon morphology 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Enthesitis-related juvenile idiopathic arthritis
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What is (are) Pyruvate kinase deficiency ?
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Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative.
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Pyruvate kinase deficiency
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What are the symptoms of Pyruvate kinase deficiency ?
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What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor). In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus. Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intrauterine growth retardation 5% Nonimmune hydrops fetalis 5% Abnormality of the amniotic fluid - Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Chronic hemolytic anemia - Increased red cell osmotic fragility - Jaundice - Reticulocytosis - Splenomegaly - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Pyruvate kinase deficiency
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What causes Pyruvate kinase deficiency ?
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What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.
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Pyruvate kinase deficiency
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Is Pyruvate kinase deficiency inherited ?
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How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21. Although the inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles. It is estimated that approximatly 1 in 100 people carry one copy of a disease-causing mutation in the PKLR gene. Carriers of one non-working PKLR gene usually have moderatly reduced levels of pyruvate kinase activity but do not develop clinical symptoms. It is possible that carriers of a mutant pyruvate kinase genemay have a protective advantage against malaria in areas where the disease is endemic.
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Pyruvate kinase deficiency
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How to diagnose Pyruvate kinase deficiency ?
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Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options.
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Pyruvate kinase deficiency
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What are the treatments for Pyruvate kinase deficiency ?
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How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5. An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/125096-treatment#showall
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Pyruvate kinase deficiency
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What are the symptoms of Charcot-Marie-Tooth disease type 1D ?
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What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Juvenile onset - Steppage gait - Upper limb muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Charcot-Marie-Tooth disease type 1D
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What are the symptoms of Hyperlipoproteinemia type 4 ?
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What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Atheroeruptive xanthoma - Autosomal dominant inheritance - Heterogeneous - Hypertriglyceridemia - Increased circulating very-low-density lipoprotein cholesterol - Precocious atherosclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Hyperlipoproteinemia type 4
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What is (are) Localized scleroderma ?
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Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling. There are two generally recognized types of localized scleroderma: morphea and linear.
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Localized scleroderma
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What are the symptoms of Localized scleroderma ?
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What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area. The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs. Morphea usually affects only the uppermost layers of your skin, but in some cases may involve fatty or connective tissue below your skin. Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from a half-inch to 12 inches in diameter. The condition sometimes appears on areas treated by radiation therapy. Some people have both morphea and linear scleroderma (which is characterized by a single line or band of thickened and/or abnormally colored skin). The disease is referred to as generalized morphea when the skin patches become very hard and dark and spread over larger areas of the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Localized scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Hypopigmented skin patches 90% Skeletal muscle atrophy 50% Camptodactyly of toe 7.5% Lower limb asymmetry 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Localized scleroderma
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What causes Localized scleroderma ?
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What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area.
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Localized scleroderma
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What are the treatments for Localized scleroderma ?
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How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea involving only the skin who want treatment, treatment may involve UVA1 phototherapy (or else broad band UVA, narrow band UVB, or PUVA), tacrolimus ointment, or steroid shots. Other treatment options include high potency steroid creams, vitamin D analog creams, or imiquimod. If a persons morphea is rapidly progressive, severe, or causing significant disability treatment options may include systemic steroids (glucocorticoids) and methotrexate. People with morphea should be monitored for joint changes and referred for physical and occupational therapy as appropriate.
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Localized scleroderma
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What is (are) Infantile-onset ascending hereditary spastic paralysis ?
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Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
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Infantile-onset ascending hereditary spastic paralysis
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What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ?
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What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Feeding difficulties in infancy 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Abnormality of eye movement 50% Pseudobulbar signs 50% Abnormal lower motor neuron morphology - Abnormality of the corticospinal tract - Abnormality of the eye - Abnormality of the face - Achilles tendon contracture - Anarthria - Autosomal recessive inheritance - Babinski sign - Chewing difficulties - Dysarthria - Infantile onset - Motor delay - Muscle weakness - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic paraplegia - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Infantile-onset ascending hereditary spastic paralysis
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What is (are) Prader-Willi syndrome ?
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Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.
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Prader-Willi syndrome
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What are the symptoms of Prader-Willi syndrome ?
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What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating and obesity. Other signs and symptoms of PWS may include: mild to moderate intellectual disability sleep abnormalities unusually fair skin underdeveloped genitals delayed or incomplete puberty short stature strabismus scoliosis small hands and feet distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth Behavioral problems are common and often include temper tantrums, stubbornness, and obsessive-compulsive tendencies. The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed speech and language development 90% Failure to thrive in infancy 90% Generalized hypotonia 90% Growth hormone deficiency 90% Hypogonadotrophic hypogonadism 90% Infertility 90% Motor delay 90% Narrow palm 90% Obesity 90% Polyphagia 90% Poor suck 90% Short foot 90% Short palm 90% Short stature 90% Specific learning disability 90% Cryptorchidism 85% Attention deficit hyperactivity disorder 75% Scrotal hypoplasia 69% Adrenal insufficiency 60% Primary amenorrhea 56% Abnormality of chromosome segregation 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Almond-shaped palpebral fissure 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Clitoral hypoplasia 50% Cognitive impairment 50% Cutaneous photosensitivity 50% Decreased muscle mass 50% Delayed puberty 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Glomerulopathy 50% Hypoplasia of penis 50% Hypoplasia of the ear cartilage 50% Hypoplastic labia minora 50% Incoordination 50% Intrauterine growth retardation 50% Kyphosis 50% Microcephaly 50% Micropenis 50% Muscular hypotonia 50% Narrow forehead 50% Narrow nasal bridge 50% Nasal speech 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Single transverse palmar crease 50% Sleep apnea 50% Strabismus 50% Telecanthus 50% Type I diabetes mellitus 50% Hypopigmentation of hair 33% Hypopigmentation of the skin 33% Impaired pain sensation 33% Iris hypopigmentation 33% Oligomenorrhea 33% Ventriculomegaly 33% Type II diabetes mellitus 25% Autism 19% Psychosis 15% Hip dysplasia 10% Carious teeth 7.5% Esotropia 7.5% Frontal upsweep of hair 7.5% Myopia 7.5% Osteopenia 7.5% Osteoporosis 7.5% Poor fine motor coordination 7.5% Radial deviation of finger 7.5% Syndactyly 7.5% Temperature instability 7.5% Upslanted palpebral fissure 7.5% Precocious puberty 4% Abdominal obesity - Clinodactyly - Decreased fetal movement - Dolichocephaly - Generalized hypopigmentation - Hyperinsulinemia - Hypermetropia - Hypoventilation - Poor gross motor coordination - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Prader-Willi syndrome
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What causes Prader-Willi syndrome ?
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What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed. In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS.
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Prader-Willi syndrome
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Is Prader-Willi syndrome inherited ?
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Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. However in rare cases, a genetic change responsible for PWS can be inherited. The risk to family members of a person with PWS depends on the genetic cause of the condition in the affected person. Because the various genetic causes of PWS are complex, people seeking information about specific risks to themselves or family members are encouraged to speak with a genetics professional. More information about the causes of PWS can be viewed on our Web site here.
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Prader-Willi syndrome
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How to diagnose Prader-Willi syndrome ?
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How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone.
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Prader-Willi syndrome
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What are the treatments for Prader-Willi syndrome ?
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How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of this condition depends on the affected person's age and symptoms. When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, scoliosis, behavioral problems, psychosis, and respiratory problems and sleep issues. In infants, special feeding techniques may be needed. Young children often need early intervention, including physical therapy for muscle strength and reaching physical milestones, and speech therapy for language issues. Cryptorchidism may resolve on its own but usually requires hormonal and/or surgical treatment. When excessive eating begins and weight percentiles increase, affected children should be on a program of a well-balanced diet, exercise, and close supervision with food. A consultation with a dietitian is recommended. Behavioral problems may be addressed with special behavioral management programs. Serotonin uptake inhibitors have helped many affected teenagers and adults, particularly those with obsessive-compulsive symptoms. Growth hormone treatment can normalize height, increase lean body mass, increase mobility, and decrease fat mass. Controlled trials of growth hormone therapies have shown significant benefit from infancy through adulthood. Benefits may include an increase in language and cognitive skills, and better motor performance. Sex hormone replacement helps to produce secondary sex characteristics (those that develop during puberty) but is somewhat controversial due to possible behavior problems in males, risk of stroke, and hygiene concerns related to menstruation in females. Clinical trials investigating potential treatment options for people with PWS are ongoing. ClinicalTrials.gov provides patients, family members, and members of the public with current information on clinical research studies. People interested in participating in clinical trials are encouraged to visit this site to determine if any trials would be helpful. Use each study's contact information to learn more. You can view a list of clinical trials for PWS here. To learn more about how to find and participate in a research study, clinical trial, or patient registry, view our Get Involved in Research page. Additional information on this topic can be found at the links below. Foundation for Prader-Willi Research - Diagnosis & Treatment GeneReviews - Prader-Willi Syndrome Medscape - Prader-Willi Syndrome
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Prader-Willi syndrome
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What is (are) Methylcobalamin deficiency cbl G type ?
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Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
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Methylcobalamin deficiency cbl G type
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What are the symptoms of Methylcobalamin deficiency cbl G type ?
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What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blindness 5% Nystagmus 5% Autosomal recessive inheritance - Cerebral atrophy - Decreased methionine synthase activity - Decreased methylcobalamin - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Infantile onset - Intellectual disability - Megaloblastic anemia - Muscular hypotonia - Poor coordination - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Methylcobalamin deficiency cbl G type
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What is (are) Malignant peripheral nerve sheath tumor ?
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A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. MPNSTs are quite rare, occurring in 0.001% of the general population. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
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Malignant peripheral nerve sheath tumor
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What are the symptoms of Glomerulopathy with fibronectin deposits 2 ?
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What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Generalized distal tubular acidosis - Microscopic hematuria - Renal cell carcinoma - Slow progression - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Glomerulopathy with fibronectin deposits 2
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What are the symptoms of Diffuse cutaneous systemic sclerosis ?
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What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Arthralgia 50% Arthritis 50% Carious teeth 50% Feeding difficulties in infancy 50% Flexion contracture 50% Malabsorption 50% Muscle weakness 50% Osteolysis 50% Pulmonary fibrosis 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Chondrocalcinosis 7.5% Congestive heart failure 7.5% Hypertensive crisis 7.5% Nausea and vomiting 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Diffuse cutaneous systemic sclerosis
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What are the symptoms of Ichthyosis bullosa of Siemens ?
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What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Acantholysis 90% Edema 90% Palmoplantar keratoderma 90% Thin skin 90% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Ichthyosis bullosa of Siemens
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What is (are) Stevens-Johnson syndrome ?
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Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids).
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Stevens-Johnson syndrome
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What are the symptoms of Stevens-Johnson syndrome ?
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What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. The condition is characterized by painful, blistery lesions on the skin and the mucous membranes (the thin, moist tissues that line body cavities) of the mouth, throat, genital region, and eyelids. It can also cause serious eye problems, such as severe conjunctivitis; iritis, an inflammation inside the eye; corneal blisters and erosions; and corneal holes. In some cases, the ocular complications from this condition can be disabling and lead to severe vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Stevens-Johnson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of temperature regulation 90% Acantholysis 90% Hypermelanotic macule 90% Malabsorption 90% Nausea and vomiting 90% Weight loss 90% Abnormality of neutrophils 50% Excessive salivation 50% Feeding difficulties in infancy 50% Abdominal pain 7.5% Abnormality of the eyelid 7.5% Abnormality of the myocardium 7.5% Abnormality of the pleura 7.5% Abnormality of the preputium 7.5% Abnormality of the urethra 7.5% Acute hepatic failure 7.5% Anemia 7.5% Corneal erosion 7.5% Coronary artery disease 7.5% Elevated hepatic transaminases 7.5% Gastrointestinal hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Sepsis 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Stevens-Johnson syndrome
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What causes Stevens-Johnson syndrome ?
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What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation.
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Stevens-Johnson syndrome
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What are the treatments for Stevens-Johnson syndrome ?
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How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144]
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Stevens-Johnson syndrome
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What are the symptoms of ITCH E3 ubiquitin ligase deficiency ?
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What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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ITCH E3 ubiquitin ligase deficiency
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What is (are) Denys-Drash syndrome ?
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Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
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Denys-Drash syndrome
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What are the symptoms of Denys-Drash syndrome ?
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What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Male pseudohermaphroditism 90% Nephroblastoma (Wilms tumor) 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Hypertension 50% Gonadal dysgenesis 7.5% Ambiguous genitalia, female - Ambiguous genitalia, male - Autosomal dominant inheritance - Congenital diaphragmatic hernia - Diffuse mesangial sclerosis - Focal segmental glomerulosclerosis - Gonadal tissue inappropriate for external genitalia or chromosomal sex - Ovarian gonadoblastoma - Somatic mutation - Stage 5 chronic kidney disease - True hermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Denys-Drash syndrome
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What causes Denys-Drash syndrome ?
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What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals.
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Denys-Drash syndrome
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Is Denys-Drash syndrome inherited ?
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Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
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Denys-Drash syndrome
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What are the symptoms of Total Hypotrichosis, Mari type ?
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What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Total Hypotrichosis, Mari type
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What are the symptoms of Ulna hypoplasia with mental retardation ?
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What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Cognitive impairment 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Muscular hypotonia 90% Short stature 90% Talipes 90% Ulnar deviation of finger 90% Abnormality of thumb phalanx 50% Preaxial foot polydactyly 50% Absent fingernail - Absent toenail - Autosomal recessive inheritance - Bilateral ulnar hypoplasia - Intellectual disability, profound - Limitation of knee mobility - Limited elbow movement - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Ulna hypoplasia with mental retardation
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What are the symptoms of Dermoids of cornea ?
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What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of the pupil 50% Abnormality of the eye - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Dermoids of cornea
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