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Hypohidrotic X-linked ectodermal dysplasia

Synonyms
Anhidrotic ectodermal dysplasia X-linked; CST syndrome; Christ Siemens Touraine syndrome; Christ-Siemans-Touraine syndrome; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; Ectodermal dysplasia 1; Ectodermal dysplasia 1, anhidrotic; Hypohidrotic Ectodermal Dysplasia, X-Linked (XLHED)
Modes of inheritance
X-linked recessive inheritance (Orphanet)

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, 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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
J Timothy Wright
Dorothy K Grange
Mary Fete
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Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED, EDA
    Summary: ectodysplasin A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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