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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.

Tests & Diagnosis

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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

References
  1. Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. GeneReviews. June 13, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1112/. Accessed 1/21/2014.


Testing

  • 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.
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.