Hypohidrotic ectodermal dysplasia with immunodeficiency

What is Hypohidrotic ectodermal dysplasia with immunodeficiency?

A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

Other condition names

  • Anhidrotic ectodermal dysplasia with immunodeficiency
  • EDA-ID
  • HED-ID

Inheritance type

Autosomal dominant, X-linked recessive

Age of Onset

  • Infancy
  • Neonatal
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