Brachydactyly type C
Brachydactyly type C (pronounced: brak-ee-dak-til-ee type see) is a rare genetic disorder characterized by shortening or malformation of the fingers and toes. The term "brachydactyly" comes from the Greek words "brachy" meaning short, and "dactylos" meaning finger.
Etymology
The term "brachydactyly" is derived from the Greek words "brachys" (short) and "daktylos" (finger). The "type C" designation is used to categorize the specific form of brachydactyly, which is characterized by specific malformations and shortening of certain fingers and toes.
Symptoms
The primary symptom of Brachydactyly type C is the shortening or malformation of the fingers and toes. This can include shortening of the middle phalanges, the bones in the fingers and toes. Other symptoms can include hypersegmentation or fusion of the hand bones, and a single crease on the fifth finger.
Causes
Brachydactyly type C is caused by mutations in the GDF5 gene. This gene provides instructions for making a protein that is involved in the formation of bones and joints.
Treatment
There is currently no cure for Brachydactyly type C. Treatment is focused on managing symptoms and improving hand function. This can include physical therapy, occupational therapy, and in some cases, surgery.
Related Terms
External links
- Medical encyclopedia article on Brachydactyly type C
- Wikipedia's article - Brachydactyly type C
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