Brachydactyly-Distal Symphalangism Syndrome

Sillence (1978) described a kindred in which grandfather, mother and 3 granddaughters, i.e., 5 persons in 3 successive generations, had brachydactyly, distal symphalangism producing a distal phalanx with the shape of a chess pawn, scoliosis, and clubfoot. The disorder resembled type A1 brachydactyly (112500), but affected persons were tall. In another symphalangism-brachydactyly syndrome (186500), the symphalangism is proximal.