Thai symphalangism syndrome

MedGen UID:: 374990
•Concept ID:: C1842679
•: Disease or Syndrome

Synonym:	Thai Symphalangism Syndrome

Monarch Initiative:	MONDO:0011949
OMIM®:	608028

Recent clinical studies

Etiology

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S
J Craniofac Surg 2003 Jan;14(1):101-4; discussion 105-7. doi: 10.1097/00001665-200301000-00019. PMID: 12544231

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Diagnosis

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.

Jenwitheesuk K, Surakunprapha P, Chowchuen B, Jetsrisuparb C
J Med Assoc Thai 2010 Oct;93 Suppl 4:S78-82. PMID: 21299053

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA
J Dermatol Sci 2008 Jan;49(1):39-42. Epub 2007 Oct 24 doi: 10.1016/j.jdermsci.2007.09.004. PMID: 17951029

Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome?

Kantaputra P, Eiumtrakul P, Matin T, Opastirakul S, Visrutaratna P, Mevate U
Am J Med Genet 2001 Jan 22;98(3):263-8. doi: 10.1002/1096-8628(20010122)98:3<263::aid-ajmg1092>3.0.co;2-1. PMID: 11169565

Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.

Kantaputra PN, Chalidapong P
Am J Med Genet 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. PMID: 10869115

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