Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia). This disease is named after J. Malouf, who performed a case study on a family with this disease in 1985. The study consisted of two sisters displaying the above symptoms. The parents of the sisters were first-degree cousins, suggesting the possibility of a genetic disorder. In 1992, a new case study of an 18-year-old female conducted by Narahara et al. resulted in similar findings as Malouf. Although the prevalence of Malouf syndrome is unknown, there are less than 20 affected families discussed in literature. While there is no specific cure for Malouf syndrome, symptoms can be treated. The treatment options individualized and should be determined by a doctor or specialist. Signs and symptoms The main symptoms of this disease are hypergonadotropic hypogonadism and cardiomyopathy, whose coexistence is extremely rare. symptoms hypergonadotropic hypogonadism cardiomyopathy dilated cardiomyopathy blepharoptosis broad nasal base mild intellectual deficit metabolic abnormalities thyroid hemiagenisis: a rare congenital abnormality of the thyroid gland characterized by the absence of one lobe aged appearance of the feet mild skeletal abnormalities diabetes mellitus collagenoma ovarian dysgenesis (female) hypoplastic genitalia: underdeveloped genitalia undescended testis (males) micropenis (males) small testis (males) Note: it is possible that males with Malouf syndrome display cardiomyopathy but not testicular dysgenesis Genetics Malouf syndrome involves an autosomal dominant inheritance pattern. It is caused by a heterozygous missense mutation in the LMNA gene located on chromosome 1 (1q22). LMNA gene encodes for lamin A and lamin C. The lamin family of proteins are components of the nuclear lamina that consists of a protein network within the inner nuclear membrane that determine nuclear stability, chromatin structure and gene expression. Mutations in this gene can lead to several diseases besides Malouf syndrome, such as familial partial lipodystrophy, limb girdle muscular dystrophy, Hutchinson-Gilford progeria syndrome etc. Therefore, making it harder to distinguish whether a patient is displaying signs of Malouf syndrome or some other disease. The most common heterozygous mutations found in the LMNA gene are a heterozygous de novo ala57-to-pro substitution (A57P) resulting from a 584G-C transversion in the LMNA gene and