ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

An autosomal dominant condition (OMIM:604292) characterised by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting (the last of which differentiates it from 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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