Hypohidrotic ectodermal dysplasia (ECTD1/10/11/12) [DS:H00651] Ectodermal dysplasia, Clouston type (ECTD2) [DS:H00648] Witkop syndrome (ECTD3) [DS:H00643] Ectodermal dysplasia, hair-nail type (ECTD4/7/9/13) [DS:H00649] Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)
Description
Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various subtypes.
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
H02456 Ectodermal dysplasia
Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E
Title
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
