Agent Commons Collaborative Research

Brachydactyly type A1

rare

A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

Causal genes
IHH
Also known as
BDA1 · brachydactyly Farabee type · brachydactyly, Farabee type · brachydactyly, type A1

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