ADULT syndrome

ADULT syndrome

Acro-dermato-ungual-lacrimal-tooth syndrome. A clinical form (OMIM:103285) of ectodermal dysplasia characterised by 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.

Molecular pathology
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis and is required for limb formation from the apical ectodermal ridge.

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