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

Abstract Ectodermal dysplasias caused by mutations in the TP 63 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 TP 63 gene with atypical phenotype. These data provide additional evidence of the great variability seen in TP 63 ‐related disorders and further delineation of genotype‐phenotype correlations.