brachydactyly type A4

A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.

Signs and symptoms

• Type A brachydactyly
• Congenital talipes calcaneovalgus
• Short middle phalanx of the 5th finger
• Short middle phalanx of the 2nd finger
• Aplasia of the middle phalanges of the toes
• Talipes calcaneovalgus

Also known as: BDA4; Temtamy type brachydactyly; brachymesophalangy II and V