Brachydactyly type B
Brachydactyly Type B
Brachydactyly Type B (pronounced: brak-ee-dak-til-ee type bee) is a rare genetic disorder characterized by the underdevelopment or absence of the bones in the fingers and toes. The term "brachydactyly" is derived from the Greek words "brachy" meaning short, and "dactylos" meaning finger.
Definition
Brachydactyly Type B is a subtype of brachydactyly, a group of genetic conditions that cause shortening of the digits. In Brachydactyly Type B, the terminal bones of the fingers and toes are typically underdeveloped or absent, leading to a distinctive hand and foot appearance.
Symptoms
The primary symptom of Brachydactyly Type B is the shortening or absence of the bones in the fingers and toes. This can result in a variety of hand and foot abnormalities, including short, stubby fingers and toes, missing or underdeveloped nails, and in some cases, syndactyly (webbed fingers or toes).
Causes
Brachydactyly Type B is caused by mutations in the ROR2 gene. This gene provides instructions for making a protein that is involved in the development of the skeleton and other tissues. Mutations in the ROR2 gene disrupt this development, leading to the characteristic features of Brachydactyly Type B.
Treatment
There is currently no cure for Brachydactyly Type B. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and in some cases, surgical intervention to improve hand and foot function.
See Also
External links
- Medical encyclopedia article on Brachydactyly type B
- Wikipedia's article - Brachydactyly type B
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