TP63-related disorders: two case reports and a brief review of the literature

Dermatol Online J. 2021 Nov 15;27(11). doi: 10.5070/D3271156088.


TP63-related disorders comprise a group of six overlapping autosomal dominant (AD) syndromes caused by heterozygous pathogenic variants in the tumor protein p63 gene (TP63). The present report describes the identification of heterozygous de novo pathogenic variants in the DNA binding domain (DBD) of the TP63 gene in two patients diagnosed with Ectodermal dysplasia-Ectrodactyly-Cleft lip/palate syndrome three (EEC3) and Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome (AEC), respectively. The report discusses the phenotypic and genotypic characteristics of these patients and provides a brief review of the TP63-related disorder literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Ectodermal Dysplasia / genetics*
  • Eye Abnormalities / genetics*
  • Eyelids / abnormalities*
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Phenotype
  • Photography
  • Syndactyly / genetics*
  • Syndrome
  • Transcription Factors / genetics*
  • Tumor Suppressor Proteins / genetics*


  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins

Supplementary concepts

  • Hay-Wells syndrome
  • Zlotogora-Ogur syndrome