ADULT syndrome

A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

Ankyloblepharon

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.


Total: 3

                       


(per page)
PMID (PMCID)
22607287
 FEMALE Child
ADULT syndrome due to an R243W mutation in TP63.
Berk DR, Armstrong NL, Shinawi M, Whelan AJ.
Int J Dermatol. 2012;51(6):693-6.
Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon.
22065614
 FEMALE Infant, Newborn
A newborn with overlapping features of AEC and EEC syndromes.
Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.
Am J Med Genet A. 2011;155A(12):3100-3.
Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others.
18603493
 MALE
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
Valenzise M, Arrigo T, De Luca F, Privitera A, Frigiola A, Carando A, Garelli E, Silengo M.
Eur J Med Genet. 2008;51(5):497-500.
Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2].