brachydactyly type A1D

A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.

Signs and symptoms

• Short distal phalanx of the thumb
• Short proximal phalanx of finger
• Short middle phalanx of the 5th finger
• Short distal phalanx of the 2nd finger
• Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
• Clinodactyly of the 5th finger
• Short proximal phalanx of thumb
• Incoordination
• Delayed speech and language development
• Abnormal foot morphology

Also known as: BDA1D