Thai symphalangism syndrome
| Thai symphalangism syndrome | |
|---|---|
| Specialty | Medical genetics, Dentistry |
| Usual onset | birth |
| Duration | life-long |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | good |
| Frequency | very rare |
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.[1]
Etimology
[edit]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.[2]
References
[edit]- ^ "OMIM Entry – 608028 – THAI SYMPHALANGISM SYNDROME". www.omim.org. Retrieved 2022-05-11.
- ^ Kantaputra, Piranit N.; Pongprot, Yupada; Praditsap, Oranud; Pho-iam, Theeraphong; Limwongse, Chanin (2003-07-30). "A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5". American Journal of Medical Genetics. Part A. 120A (3): 381–385. doi:10.1002/ajmg.a.20040. ISSN 1552-4825. PMID 12838559. S2CID 2360927.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |