hypohidrotic ectodermal dysplasia

(redirected from CST syndrome)

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

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].

hypohidrotic ectodermal dysplasia

An X-linked [MIM 305100] ectodermal dysplasia with anhidrosis, heat intolerance, and hypoplasia of sebaceous and sweat glands, resulting in dry, smooth and glossy skin; CSTS is accompanied by gonadal hypoplasia, ageusia, anosmia, URIs, absent nipples, partial anodontia or peg teeth, hypotrichosis, saddle nose, dysphagia, physical and mental retardation, feminine appearance and cleft palate; almost all patients are male

hypohidrotic ectodermal dysplasia (hī´pōhīdrot´ik ektōdur´məl dis-plā´zhə),

n a syndrome consisting of hypodontia, hypotrichosis, hypohidrosis, and other defects related to the development of ectodermal structures.