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;
Origin ID : 113450;
UMLS CUI : C1862092;
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)