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ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
OMIM number: 305100
Comments closing date: 08/08/2025
Ectodermal Dysplasia Type 1, also called Hypohidrotic Ectodermal Dysplasia (HED), is the most common type of a group of genetic conditions called ectodermal dysplasias. It mainly affects parts of the body that develop from the outer layer of the embryo. This includes the skin, hair, nails, teeth, and sweat glands. People with HED often have very fine, thin hair, and their teeth may be missing or shaped like small cones. Their skin tends to be dry and thin. Because they may lack sweat glands, they can overheat easily. People with HED also tend to have a recognizable facial appearance, which may include a prominent forehead, thin lips, and a flattened bridge of the nose. There is a current authorisation in place for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED) to avoid the condition in affected males. The committee will be considering the effects of the condition on female carriers of the condition within this application.
Review date: 11 July 2027
