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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hypohidrotic ectodermal dysplasia


Other Names for this Disease

  • Anhidrotic ectodermal dysplasia
  • Christ-Siemens-Touraine syndrome
  • CST syndrome
  • Ectodermal dysplasia anhidrotic
  • Ectodermal dysplasia, hypohidrotic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Is testing available for hypohidrotic ectodermal dysplasia? How can I find local specialists?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hypohidrotic ectodermal dysplasia?

Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).[1]
Last updated: 1/21/2014

Is genetic testing available for hypohidrotic ectodermal dysplasia?

Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis.[1]

Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes.[1] We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options.

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/21/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

References
Other Names for this Disease
  • Anhidrotic ectodermal dysplasia
  • Christ-Siemens-Touraine syndrome
  • CST syndrome
  • Ectodermal dysplasia anhidrotic
  • Ectodermal dysplasia, hypohidrotic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.