Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and...

Heterozygous mutations in the tumor protein p63 (TP63) gene underlie a spectrum of autosomal dominant syndromes, affecting ectodermal, limb, and orofacial development. We report an infant born with ectrodactyly (split-hand/foot malformation), cleft lip and palate, and a solitary kidney with hydronephrosis. Genetic testing revealed a heterozygous TP63 missense variant, c.740A>G (p.His247Arg), inherited from his affected father, confirming Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome. This case highlighted the clinical significance of the TP63 p.His247Arg mutation, previously reported as pathogenic in EEC. The infant's abnormalities required multidisciplinary management, including surgical, urologic, and nutritional support. Our findings emphasized the markedly variable expression associated with TP63-related disorders. The father, despite carrying the same mutation, exhibited only a milder clinical presentation. Early genetic diagnosis was crucial for tailored management and family counseling. This report underscores the importance of recognizing TP63 syndromes. It also reviews some relevant cases and studies from the literature and illustrates how genetic findings inform prognosis and guide comprehensive care in EEC syndrome.