OMIM 103285 | DiseasesDB 32742 | |
Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease. ADULT syndrome is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. The syndrome arises from a mutation in the TP63 gene. This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.
Contents
Symptoms
ADULT syndrome features include ectrodactyly, syndactyly, excessive freckling, lacrimal duct anomalies, dysplastic nails, hypodontia, hypoplastic breasts and nipples, hypotrichosis, hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis. The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome.
Cause
ADULT syndrome is due to autosomal dominant mutations of the TP63 gene, which encodes the p63 protein. TP63 mutations cause deformities because the p63 protein is critical in embryonic development of limbs and other ectodermal tissues. 7 mutations have been found, the commonest forms being R298Q and R243W, in which encoding for arginine is changed to glutamine at position 298 and tryptophan at position 243 respectively. Other p63 genes mutation syndromes include ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) and Hay-Wells syndromes.