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Autosomal recessive hypohidrotic ectodermal dysplasia

rare

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.

Identifiers
MONDO:0016619 Orphanet:248
Part of
Autosomal recessive diseaseHypohidrotic ectodermal dysplasia
Also known as
anhidrotic ectodermal dysplasia, autosomal recessive · AR-HED · autosomal recessive anhidrotic ectodermal dysplasia · hypohidrotic ectodermal dysplasia autosomal recessive · hypohidrotic ectodermal dysplasia, autosomal recessive

Subtypes

All diseases Rare only
Disease Subtypes
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Rare disease

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