ADULT syndrome

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ADULT syndrome2016-11-24T14:05:41+00:00

ADULT syndrome

GENETICS, PAEDIATRICS

A form* (OMIM:103285) of ectodermal dysplasia, with ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling of skin, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth. Unlike EEC3 syndrome, there is no facial clefting in ADULT syndrome.

*ADULT is an acronym for acro-dermato-ungual-lacrimal-tooth

Molecular pathology Defects of TP63, which encodes a p53 transcription factor that acts as a sequence specific DNA binding regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge, cause ADULT syndrome. 

Abbreviation for Acro-dermato-ungual-lacrimal-tooth syndrome 

References http://www.uniprot.org/uniprot/Q9H3D4

http://www.omim.org/entry/103285              

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