Brachydactyly type A1- MedGen UID:
- 354673
- •Concept ID:
- C1862151
- •
- Disease or Syndrome
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.