Autosomal recessive hypohidrotic ectodermal dysplasia

Definition

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.

Also known as AR-HED, autosomal recessive anhidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, autosomal recessive — per MONDO

Also identified as

• MESH D053360 per MONDO
• NCIT C84580 per MONDO
• Orphanet 248 per MONDO
• SCTID 27025001 per MONDO
• UMLS C0406702 per MONDO

Affected Organs