ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome

Abstract

Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes.