" /> Brachydactyly-distal symphalangism syndrome - CISMeF





Preferred Label : Brachydactyly-distal symphalangism syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : 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. *FIELD* RF 1. Sillence, D. O.: Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome. J. Med. Genet. 15: 208-211, 1978. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 113450;

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03/05/2025


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