ectodermal dysplasia and immune deficiency (DOID:0081077)
Alliance: disease page
Synonyms: Anhidrotic ectodermal dysplasia with immune deficiency; Ectodermal dysplasia, hypohidrotic, with immune deficiency
Alt IDs: OMIM:PS300291
Definition: An ectodermal dysplasia syndrome that is 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.