Thai symphalangism syndrome
# Thai symphalangism syndrome

Thai symphalangism syndrome is a novel genetic disorder which is characterized by proximal and distal symphalangism of the fingers, postaxial polydactyly, hypodontia, ear dysplasia, blepharoptosis, short stature, toe distal phalange agenesis, and frenula hyperplasia.

## Etimology

This disorder was discovered in 2003 by Kantaputra et al., who described a 12 year old Thai girl with the symptoms mentioned above.

Unlike other rare genetic syndromes with 1-5 reported cases, this disorder has a known genetic cause: mutations in the NOG and GDF5 genes. Mutations responsible for other symphalangism syndromes were not found in the girl.

