Preferred Label : Thai symphalangism syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Kantaputra et al. (2003) described a 12-year-old Thai girl with what they proposed
represents a 'new' syndrome of proximal and distal symphalangism, postaxial polydactyly,
hypodontia, and multiple and hyperplastic frenula. Blepharoptosis and dysplastic ears
were also described. The fingernails were not dysplastic. The patient was of short
stature. In the feet there was absence of the distal phalanges of toes II-V and postaxial
polydactyly of the left foot. Mutation analyses of NOG (602991) and GDF5 (601146),
the genes responsible for symphalangism-related syndromes, were negative. *FIELD*
RF 1. Kantaputra, P. N.; Pongprot, Y.; Praditsap, O.; Pho-iam, T.; Limwongse, C.:
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic
ears, dental anomalies, and exclusion of NOG and GDF5. Am. J. Med. Genet. 120A: 381-385,
2003. *FIELD* CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 608028;
Origin ID : 608028;
UMLS CUI : C1842679;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
