Medicine:Thai symphalangism syndrome
From HandWiki
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
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
- ↑ "OMIM Entry – 608028 – THAI SYMPHALANGISM SYNDROME" (in en-us). https://www.omim.org/entry/608028.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/12838559/.
Original source: https://en.wikipedia.org/wiki/Thai symphalangism syndrome.
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