Hypohidrotic ectodermal dysplasia

Description

Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom.

Index terms

Hypohidrotic ectodermal dysplasia
Anhidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia

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Autosomal recessive hypohidrotic ectodermal dysplasia
X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
EDA-ID syndrome
EDA-ID syndrome (MIM 300291)
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
ANOTHER syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD27.00 – Incontinentia pigmenti
LD27.01 – Cronkhite-Canada syndrome
LD27.03 – Hidrotic ectodermal dysplasia, Clouston type
LD27.0Y – Other specified ectodermal dysplasia syndromes
LD27.0Z – Ectodermal dysplasia syndrome, unspecified

Foundation entity

Hypohidrotic ectodermal dysplasia – http://id.who.int/icd/entity/673167184

Part of: LD27.0: Ectodermal dysplasia syndromes › LD27: Syndromes with skin or mucosal anomalies as a major feature › 20: Developmental anomalies