Brachydactyly type B

From WikiMD.org
Jump to navigation Jump to search

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

Esculaap.svg

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