oculodentodigital dysplasia

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oculodentodigital dysplasia2016-11-27T15:16:03+00:00

oculodentodigital dysplasia

GENETICS

An über rare type of ectodermal dysplasia (OMIM:164200) characterised by typical facies and variable involvement of the eyes, teeth, and digits (fingers/toes).

Clinical findings

• Facies Narrow, pinched nose, hypoplastic alae nasi, prominent columella, thin anteverted nares, narrow nasal bridge, and prominent epicanthic folds, giving the impression of hypertelorism.

• Eyes Microphthalmia, microcornea.

• Teeth Small and caries-prone.

• Digits Complete syndactyly of 4th and 5th fingers (syndactyly 3); 3rd finger may be involved, often accompanied by camptodactyly

Other findings include cardiac malformations (rare), iris atrophy, glaucoma, fine fragile hair, conductive deafness, ataxia, spastic paraplegia, bladder and bowel dysfunction. 

Molecular pathology Defects of GJA1, which encodes a gap junction protein family (connexin) thought to play a key role in the synchronised contraction of the heart and in embryonic development, cause oculodentodigital dysplasia.

Synonyms Dysplasia oculodentodigitalis, Gillespie syndrome, Meyer Schwickerath-Weyers syndrome, Mohr syndrome (in part), oculodentodigital syndrome, oculodentoosseous dysplasia, oculodentoosseous syndrome, ODD syndrome, ODDD, ODOD 

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/164200

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