GTR Home > Conditions/Phenotypes > Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Summary

Excerpted from the GeneReview: Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.

Available tests

33 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, EDAR
    Summary: ectodysplasin A receptor

  • Also known as: ECTD11A, ECTD11B, ED3, EDA3, EDARADD
    Summary: EDAR associated death domain

Clinical features

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