Hypochondroplasia
Hypochondroplasia is a form of short stature that is characterized by a smaller than average body size. The condition is caused by mutations in the FGFR3 gene, which is responsible for the development and maintenance of bone and brain tissue.
Symptoms[edit | edit source]
The most common symptom of hypochondroplasia is short stature. Other symptoms may include:
- Limited range of motion in the elbows
- Bowed legs
- Large head with a prominent forehead
- Short fingers
- Broad hands
Causes[edit | edit source]
Hypochondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR3 gene cause the protein to be overactive, which interferes with normal bone growth and leads to the short stature seen in hypochondroplasia.
Diagnosis[edit | edit source]
Diagnosis of hypochondroplasia is usually based on physical features. Genetic testing can confirm a diagnosis.
Treatment[edit | edit source]
There is currently no cure for hypochondroplasia. Treatment is focused on managing symptoms and may include:
- Physical therapy to improve range of motion
- Surgery to correct bowed legs
- Growth hormone therapy to increase height
Prognosis[edit | edit source]
The prognosis for individuals with hypochondroplasia is generally good. Most people with the condition have a normal lifespan and are able to lead productive lives.
See also[edit | edit source]
References[edit | edit source]
Hypochondroplasia Resources | |
---|---|
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD