anhidrotic ectodermal dysplasia


an·hi·drot·ic ec·to·der·mal dys·pla·si·a

[MIM*305100] a disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth finely wrinkled skin, syndactyly, absent mammary gland tissue, and occasionally mental retardation; X-linked recessive inheritance, caused by mutation in the ED1 gene on chromosome Xq. There is also an autosomal dominant form [MIM*129490] and an autosomal recessive form [MIM*224900]. Synonym(s): hypohidrotic ectodermal dysplasia

Christ,

Josef, German physician and dentist, 1871-1948. Christ-Siemens-Touraine syndrome - congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair, and associated with deformed nails, absent breast tissue, mental retardation, or syndactyly. Synonym(s): anhidrotic ectodermal dysplasia

Rapp,

R.S., Rapp-Hodgkin syndrome - autosomal dominant inheritance, with cleft palate and lip deformities. Synonym(s): anhidrotic ectodermal dysplasia

an·hi·drot·ic ec·to·der·mal dys·pla·si·a

(anhī-drotik ektō-dĕrmăl dis-plāzē-ă) [MIM*305100] Disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth finely wrinkled skin, syndactyly, absent mammary gland tissue, and occasionally mental retardation.