Sillence Syndrome

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

Epidemiology

The syndrome has been described in one family with five affected individuals from three successive generations.

Genetic counseling

Transmission appears to be autosomal dominant.