Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H00647 Ectodermal dysplasia-syndactyly syndrome
Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B
Title
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
