Brachydactyly type C

What is Brachydactyly type C?

A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.

Inheritance type

Autosomal dominant, Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
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