brachydactyly type A2


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Related to brachydactyly type A2: Brachydactyly type B, Short digits

brachydactyly type A2

An inherited malformation (OMIM:112600) characterised by shortened digits due to defective development of the phalanges and/or the metacarpals. BDA2 was described first in a large Norwegian kindred.
 
Brachydactyly syndromes have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3), which usually manifest as autosomal dominant traits.

Molecular pathology
BMPR1B mutations cause BDA2 and function as dominant negatives.
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