Preferred Label : Patent ductus arteriosus and bicuspid aortic valve with hand anomalies;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Gelb et al. (1999) reported a 3-generation family with 7 affected individuals who
had variable cardiovascular defects (patent ductus arteriosus (see 607411), bicuspid
aortic valve, and pseudocoarctation of the aorta) and hand anomalies, including fifth
metacarpal hypoplasia and brachydactyly. Inheritance was consistent with autosomal
dominance, although X-linked dominance could not be excluded. Given the similarity
between this syndrome and Char syndrome (169100), the authors performed linkage analysis
using DNA markers spanning the Char syndrome critical region at 6p21.1-p12. This analysis
excluded the possibility that the family was inheriting an allelic variant of Char
syndrome. Gelb et al. (1999) concluded that this is a novel heart-hand syndrome. *FIELD*
RF 1. Gelb, B. D.; Zhang, J.; Sommer, R. J.; Wasserman, J. M.; Reitman, M. J.; Willner,
J. P.: Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies:
a novel heart-hand syndrome. Am. J. Med. Genet. 87: 175-179, 1999. *FIELD* CS Autosomal
dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 604381;
Origin ID : 604381;
UMLS CUI : C1858420;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
