Brachydactyly-distal symphalangism syndrome

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;

Détails

Origin ID

113450;

UMLS CUI

C1862092;

Currated CISMeF NLP mapping
- Brachydactyly and distal symphalangism syndrome (disorder) [SNOMED CT concept]
- Sillence syndrome [MeSH concept]
- Sillence syndrome [ORDO Disease]
- sillence syndrome [MeSH Supplementary Concept]
HPO term(s)
- Aplasia of the middle phalanx of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Broad foot [HPO term]
- Camptodactyly of finger [HPO term]
- Chess-pawn distal phalanges [HPO term]
- Distal symphalangism of hands [HPO term]
- Flat acetabular roof [HPO term]
- Horizontal acetabular roof [HPO term]
- Normal to tall stature [HPO term]
- Pes cavus [HPO term]
- Short 1st metacarpal [HPO term]
- Single transverse palmar crease [HPO term]
- Tall stature [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Type A1 brachydactyly [HPO term]
ORDO concept(s)
- Sillence syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly and distal symphalangism syndrome (disorder) [SNOMED CT concept]
- Sillence syndrome [MeSH concept]
- sillence syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients