Ectodermal dysplasia

Ectodermal dysplasia is a dermal disease (MIM 305100 / MIM 129490 / MIM 224900) that comprises two types: hidrotic and hypohidrotic ectodermal dysplasia.

The two types can be distinguished by the ability or inability to perspire. Hypohidrotic ectodermal dysplasia is characterised by atrichosis/hypotrichosis, anodontia/hypodontia and anhidrosis/hypohidrosis.

Inheritance

X-linked, autosomal dominant or autosomal recessive

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Genes

The disorder is caused by mutations in the genes EDA (MIM 300451), EDAR (MIM 604095) or EDARADD (MIM 606603).

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