Brachydactyly type A2
Brachydactyly type A2 (pronunciation: brak-i-dak-til-ee type A2) is a rare genetic condition characterized by the shortening or absence of the middle bone in the second finger (the index finger) and sometimes the fifth finger (the little finger). The term "brachydactyly" comes from the Greek words "brachy" meaning "short" and "daktylos" meaning "finger".
Etymology
The term "brachydactyly" is derived from the Greek words "brachy" meaning "short" and "daktylos" meaning "finger". The "type A2" designation refers to the specific pattern of digit shortening associated with this condition.
Symptoms
People with brachydactyly type A2 often have unusually short index fingers and may also have short little fingers. In some cases, the middle bone of these fingers may be missing entirely. Other fingers and toes are typically normal in length.
Causes
Brachydactyly type A2 is caused by mutations in the BMPR1B or GDF5 gene. These genes are involved in the formation and development of bones and other tissues in the body.
Related Terms
- Brachydactyly: A general term for shortening of the fingers and toes due to underdevelopment of the bones.
- BMPR1B: A gene associated with the development of bones and other tissues.
- GDF5: Another gene associated with the development of bones and other tissues.
See Also
- Brachydactyly type A1
- Brachydactyly type B
- Brachydactyly type C
- Brachydactyly type D
- Brachydactyly type E
External links
- Medical encyclopedia article on Brachydactyly type A2
- Wikipedia's article - Brachydactyly type A2
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