hypohidrotic ectodermal dysplasia


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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].

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.
References in periodicals archive ?
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.
Whole saliva in X-linked hypohidrotic ectodermal dysplasia.
Previously, elongated, slender fingernails have only been reported in single patients with either Ehlers-Danlos syndrome, (11) hypohidrotic ectodermal dysplasia, (13) or Marfan syndrome.
Hypohidrotic Ectodermal Dysplasia, X-Linked Recessive This is the most common type of ectodermal dysplasia; males are severely affected while females are carriers and very mildly affected.
Holm Schneider at the University of Erlangen-Nuernberg, Germany, found that in contrast to previous reports of apparently normal sweating in a mixed cohort of male and female hypohidrotic ectodermal dysplasia patients, all 31 XLHED males (representing 25 different EDA mutations/deletions) demonstrated pilocarpine-stimulated sweat volumes (0-11 l) that did not overlap with the range of values obtained in age-matched control subjects (38-93 l).
VIENNA -- Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced that Neil Kirby, Ph.