What Is Achondroplasia?
Achondroplasia is a skeletal dysplasia. Skeletal dysplasias (diss-PLAY-zhuhs) are conditions that cause problems with how
and bone grow.
Children growing up with achondroplasia (ay-kon-druh-PLAY-zhuh) can live long, productive lives. Treatment can help with related problems, and new research offers hope for even better treatments.
What Are the Signs & Symptoms of Achondroplasia?
Children with achondroplasia have:
- dwarfism (height less than 4 feet, 10 inches [145 cm] as an adult)
- a large head
- a forehead that has an outward curve above the eyebrows (called frontal bossing)
- flattening of the part of the nose between the eyes (called midface hypoplasia)
- arms and legs that are short compared with the body
- elbows that are hard to straighten but loose joints everywhere else
- short, widely spread fingers
- bow legs (knees curve out) or knock-knees (knees curve in)
- a curved spine
- a narrowing of the foramen magnum (the opening at the bottom of the skull)
- a different timeline of motor development (later to sit, crawl, and walk than other kids)
Achondroplasia does not affect thinking and learning abilities.
What Problems Can Happen?
Health problems in achondroplasia can include:
- sleep apnea
- a lot of ear infections and/or fluid buildup
- an outward bend in a baby’s lower spine (thoracolumbar kyphosis)
- in adults: narrowing of the lower spinal canal (lumbar spinal stenosis) that can lead to pressure on the spinal cord (called cord compression) and cause back pain, leg weakness, and problems with peeing
- leg bowing that leads tripping and falling, or causes joint pain
What Causes Achondroplasia?
A gene mutation (change) causes achondroplasia. It makes bones grow slower and end up shorter than they typically would be.
A child can inherit achondroplasia if either parent has it. But most children born with it have a new (or spontaneous) genetic mutation that happened before birth, and neither parent has the condition.
A genetic counselor can help families understand how achondroplasia can run in families.
How Is Achondroplasia Diagnosed?
Most of the time, doctors diagnose it at birth or early in childhood. If a child is shorter than other kids the same age, or has short arms and legs, doctors do an exam and tests to find the cause. These tests usually include X-rays and sometimes genetic testing.
How Is Achondroplasia Treated?
There’s no cure for achondroplasia, but doctors and scientists are working on medicines that can help with bone growth. Gene therapies are also being studied.
A team of specialists cares for people with achondroplasia. They usually include:
- an orthopedic surgeon: for bone problems
- a genetics doctor: to help families understand the genetic changes and recommend future health care
- a pulmonologist: for sleep apnea
- an otolaryngologist (ear, nose, and throat [ENT] doctor): for help with ear fluid and/or infections
- a neurosurgeon: for brain and spinal cord problems
- a pediatrician: for routine care
- an occupational therapist: for help with writing, eating, and other everyday activities
Treatments may include:
- changes for everyday living, such as lower chairs with feet support, light switch extenders, and stools where needed
- ear tubes to help drain fluid from the ears
- weight management (after 2 years of age)
- back support for babies with thoracolumbar kyphosis
- sleep apnea treatment
- surgery to straighten the legs, straighten the spine, or ease narrowing of the spinal canal
Sometimes the care team will suggest avoiding activities that have a risk of neck injury such as contact sports, gymnastics, and trampolines.
When Should I Call the Care Team?
Call someone on your care team right away if your child:
- has a tense or hard fontanel (soft spot) on the top of the head (for babies)
- loses motor skills (for example, has stopped crawling, walking, or using one side of the body)
- complains of pain, tingling, numbness, or weakness in the arms or legs
- pauses breathing while asleep, or snores very loud or very often
- says “huh?” or “what?” a lot, or turns up the radio or TV louder than before, or seems like they can’t hear as well as before
- has pee or poop accidents (as a teen)
How Can Parents Help?
To help your child:
- Treat your child according to their age, not their size, and encourage others to do the same.
- Talk about achondroplasia as a difference rather than a problem. Your attitude can help your child develop good self-esteem.
- Find ways to adapt. For example, get a light switch extender and a stepstool so your child can turn the lights on and off. Encourage school staff to make similar changes that will help your child.
- Answer questions as simply as possible. If someone asks why your child is short, for example, say, “Santiago is shorter because his bones do not grow as fast as yours.” Then, mention something special about your child. For example, “Nothing holds Santiago back. He’s a great photographer.” This shows your child that many things make them special.
- Teach your child that being teased or bullied is not OK. If they’re teased or bullied at school, work with your child, teachers, and administrators to end it.
- Check with your doctor about any sports your child should avoid.
What Else Should I Know?
Your child can live a full and happy life. Regular medical care will help them stay well and let doctors treat any health problems right away. Talk to anyone on the care team or a hospital social worker about resources that can help you and your child.
Support groups can be helpful for kids and their families. Ask the care team for recommendations. You also can find support and more information online at:
Achondroplasia Ni Nini? Achondroplasia ni ugonjwa wa mifupa. Dysplasia ya mifupa (diss-PLAY-zhuhs) ni hali ambazo husababisha matatizo na jinsi mifupa inavyoongezeka. Watoto wanaokua wakiwa na ugonjwa wa achondroplasia (ay-kon-druh-PLAY-zhuh) wanaweza kuishi maisha marefu na yenye matokeo. Matibabu yanaweza kusaidia na matatizo yanayohusiana na hilo, na utafiti mpya hutoa tumaini la kupata matibabu bora hata zaidi. Dalili na Dalili za Achondroplasia Ni Zipi? Achondroplasia ni ugonjwa wa watoto wenye urefu wa chini ya sentimita 145, ambao ni pamoja na: kichwa kikubwa, kipaji cha mbele kilichojipinda juu ya vipaji vya mbele, sehemu ya pua iliyo kati ya macho iliyojipinda, mikono na miguu iliyofupika ikilinganishwa na mwili, mikono ambayo ni ngumu kusonga, lakini viungo vya kila mahali pengine ni vya kutosha, vidole vifupi vilivyo wazi, miguu iliyojipinda, magnum na magnum, na uwezo wa watoto wa kukaribia. Ni Matatizo Gani Yaweza Kutokea? Achondroplasia ni ugonjwa wa kuambukiza wa tumbo, ambao ni pamoja na: - apnea ya usingizi, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti, - upungufu wa sauti. Mabadiliko ya chembe za urithi husababisha achondroplasia. Inafanya mifupa ikue polepole na kuishia kuwa fupi kuliko ilivyo kawaida. Mtoto anaweza kurithi ugonjwa wa achondroplasia ikiwa mzazi yeyote ana ugonjwa huo. Lakini watoto wengi wanaozaliwa na ugonjwa huo wana mabadiliko mapya ya chembe za urithi (au ya ghafula) yaliyotokea kabla ya kuzaliwa, na hakuna mzazi yeyote aliye na ugonjwa huo. Mshauri wa maumbile aweza kusaidia familia kuelewa jinsi achondroplasia inavyoweza kuenea katika familia. Achondroplasia Hugunduliwaje? Mara nyingi, madaktari hupata ugonjwa huo wakati wa kuzaliwa au mapema katika utoto. Ikiwa mtoto ni mfupi kuliko watoto wengine wa umri huo, au ana mikono na miguu mifupi, madaktari hufanya uchunguzi na vipimo ili kupata sababu. Kwa kawaida vipimo hivyo hutia ndani uchunguzi wa miale ya X na nyakati nyingine upimaji wa maumbile. Achondroplasia Hutibiwaje? Hakuna tiba ya achondroplasia, lakini madaktari na wanasayansi wanafanya kazi juu ya dawa ambazo zinaweza kusaidia ukuaji wa mifupa. Tiba za jeni pia zinachunguzwa. Timu ya wataalamu huwatunza watu walio na ugonjwa wa achondroplasia. Upasuaji wa utumbo: kwa ajili ya matatizo ya mifupa; daktari wa urithi: kusaidia familia kuelewa mabadiliko ya maumbile na kupendekeza huduma za afya za baadaye; daktari wa mapafu: kwa ajili ya apnea ya usingizi; daktari wa pua: kwa ajili ya upungufu wa sauti na sauti; daktari wa pua: kwa ajili ya upungufu wa sauti na sauti; daktari wa pua: kwa ajili ya matatizo ya ubongo na uti wa mgongo; daktari wa watoto: kwa ajili ya huduma ya kawaida; daktari wa kazi: kwa ajili ya kuandika, kula, na shughuli nyingine za kila siku; matibabu yanaweza kujumuisha: - mabadiliko ya kila siku, kama vile viti vya chini na msaada wa miguu, mwongozo wa mwendo, na mazoezi ya mgongo. Ni Wakati Gani Wenye Kupaswa Kupigia Simu Kikosi cha Utunzaji? "Mwanamume mmoja aliyejitolea kumtunza mtoto wake, ambaye ana ""fontanel"" ngumu juu ya kichwa chake, amepoteza uwezo wake wa kusonga, ameacha kutambaa, kutembea, au kutumia upande mmoja wa mwili, anaugua maumivu, kukohoa, kutokuwa na nguvu, au udhaifu katika mikono au miguu, anapomaliza kupumua wakati wa kulala, au anapiga kelele sana au mara nyingi, anasema ""Huh?"" au ""Ni nini?"" au anainua sauti ya redio au TV zaidi kuliko hapo awali, au anaonekana hawezi kusikia kama hapo awali." Msaada: Mtendee mtoto wako kulingana na umri wake, si ukubwa wake, na uwatie moyo wengine wafanye vivyo hivyo. - Zungumza juu ya achondroplasia kama tofauti badala ya tatizo. Mtazamo wako unaweza kumsaidia mtoto wako asitawishe kujistahi. - Tafuta njia za kuzoea hali. Kwa mfano, chukua kifaa cha kugeuza taa na kiti cha kuegesha miguu ili mtoto wako aweze kuwasha na kuzima taa. Washauri wafanyakazi wa shule wafanye mabadiliko kama hayo ambayo yatamsaidia mtoto wako. - Jibu maswali kwa njia rahisi iwezekanavyo. "Ikiwa mtu anakuuliza kwa nini mtoto wako ni mfupi, kwa mfano, sema, ""Santiago ni mfupi kwa sababu mifupa yake haikui haraka kama yako."" Kisha, taja jambo fulani la pekee kuhusu mtoto wako." Kwa mfano, <unk>Hakuna kitu kinachomzuia Santiago. Yeye ni mpiga picha mzuri. Hii inaonyesha mtoto wako kwamba mambo mengi huwafanya wawe wa pekee. - Mfundishe mtoto wako kwamba si jambo zuri kuchekeshwa au kudhulumiwa. Ikiwa wanadhalilishwa au kudhulumiwa shuleni, fanya kazi pamoja na mtoto wako, walimu, na wasimamizi ili kukomesha jambo hilo. - Jibu daktari wako kuhusu michezo yoyote ambayo mtoto wako anapaswa kuepuka. Ni Nini Zaidi Ninapaswa Kujua? Mtoto wako anaweza kuishi maisha ya furaha na yenye furaha. Matibabu ya kawaida yatawasaidia wawe na afya nzuri na kuwaacha madaktari watende matatizo yoyote ya afya mara moja. Zungumza na msaidizi wa hospitali au mfanyakazi wa kijamii kuhusu njia za kukusaidia na mtoto wako. Vikundi vya utegemezo vinaweza kuwa na manufaa kwa watoto na familia zao. Uliza timu ya utunzaji kwa mapendekezo. Unaweza pia kupata msaada na habari zaidi mtandaoni kwenye: