Hypohidrotic ectodermal dysplasia with immunodeficiency
Engelsk navn: Hypohidrotic ectodermal dysplasia with immunodeficiency
Engelske synonym: Anhidrotic ectodermal dysplasia with immunodeficiency,EDA-ID,HED-ID
Definisjon
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.
Fra Orphanet
ORPHA: 98813
Klassifiseringsnivå: Disorder
ICD-10: D82.8