Conditions / Genetic

brachydactyly type A1C

info · Genetic

A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.

Signs and symptoms

  • Brachydactyly
  • Short middle phalanx of the 4th finger
  • Short 1st metacarpal
  • Short middle phalanx of the 5th finger
  • Short middle phalanx of the 2nd finger
  • Short middle phalanx of the 3rd finger
  • Short stature
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus
  • Fibular hypoplasia

Also known as: BDA1C