anhidrotic ectodermal dysplasia


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Related to anhidrotic ectodermal dysplasia: familial dysautonomia

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].

anhidrotic ectodermal dysplasia

a congenital X-linked disorder fully expressed in males, or rarely an autosomal-recessive trait with full expression in both sexes, characterized by ectodermal dysplasia associated with aplasia or hypoplasia of the sudoriferous glands, hypothermia, alopecia, anodontia, conical teeth, and typical facies with frontal bossing, midfacial hypoplasia, saddle nose, large chin, and thick lips. Also called Christ-Siemens-Touraine syndrome, congenital ectodermal defect, hypohidrotic ectodermal dysplasia. Also called antihidrotic.
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Anhidrotic 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.

anhidrotic ectodermal dysplasia (an´hīdrot´ik ek´tōder´məl displā´zhə),