Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.

Ectodermal dysplasias caused by mutations in the TP63 gene comprise a group of disorders characterized by a spectrum of ectodermal changes, orofacial clefting, and split hand or foot malformation. We report on a boy with a mutation located in the DNA-binding domain of the TP63 gene with atypical phenotype. These data provide additional evidence of the great variability seen in TP63-related disorders and further delineation of genotype-phenotype correlations.