Hypohidrotic Ectodermal Dysplasia 1 (EDA)
Hypohidrotic ectodermal dysplasia 1 is a pan-ethnic disorder caused by pathogenic variants in the gene EDA. It is inherited in an X-linked manner, and therefore males are affected more often and more severely than females. Pathogenic variants causing this disorder are linked to developmental defects associated with the hair, skin, nails, teeth, and sweat glands of affected individuals. Symptoms include hypohidrosis (reduced ability to sweat), sparse scalp and body hair, light-colored and brittle hair, absent, small, and/or malformed teeth. Patients will also have chronic skin problems, such as eczema. The disease prognosis is generally favorable with the proper treatment and management of symptoms.
For information about carrier frequency and residual risk, please see the residual risk table.