Thai Symphalangism Syndrome

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.