Brachydactyly type A1

What is Brachydactyly type A1?

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.

Other condition names

  • Brachydactyly, Farabee type

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Infancy
  • Neonatal
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