Brachydactyly type E
Brachydactyly type E (pronounced: brak-ee-dak-til-ee type E) is a rare genetic condition characterized by the shortening of the metacarpals and/or metatarsals in the hands and feet. The term "brachydactyly" is derived from the Greek words "brachys" meaning short, and "daktylos" meaning finger.
Definition
Brachydactyly type E is a subtype of brachydactyly, a condition where the fingers and toes are shorter than average due to underdevelopment of the bones in the hands and feet. This condition can occur alone or as part of a syndrome.
Symptoms
The primary symptom of brachydactyly type E is the shortening of the metacarpals and/or metatarsals. This can result in shorter than average fingers and toes. Other symptoms can include joint pain, limited mobility, and in some cases, physical deformity.
Causes
Brachydactyly type E is caused by mutations in the HOXD13 gene. This gene provides instructions for making a protein that plays a crucial role in the development of the limbs, fingers, and toes.
Diagnosis
Diagnosis of brachydactyly type E is typically made through a physical examination and confirmed with genetic testing. X-rays may also be used to visualize the shortened bones.
Treatment
There is currently no cure for brachydactyly type E. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, pain management, and in some cases, surgery to correct deformities.
See also
External links
- Medical encyclopedia article on Brachydactyly type E
- Wikipedia's article - Brachydactyly type E
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski