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Thai symphalangism syndrome

From Wikipedia, the free encyclopedia
Thai symphalangism syndrome
SpecialtyMedical genetics, Dentistry
Usual onsetbirth
Durationlife-long
CausesGenetic mutation
Preventionnone
Prognosisgood
Frequencyvery 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

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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

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  1. ^ "OMIM Entry – 608028 – THAI SYMPHALANGISM SYNDROME". www.omim.org. Retrieved 2022-05-11.
  2. ^ 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.