Hypohidrotic ectodermal dysplasia
Other Names for this Disease
- Anhidrotic ectodermal dysplasia
- Christ-Siemens-Touraine syndrome
- CST syndrome
- Ectodermal dysplasia anhidrotic
- Ectodermal dysplasia, hypohidrotic
Your QuestionIs testing available for hypohidrotic ectodermal dysplasia? How can I find local specialists?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Clinical testing is available for detection of disease causing mutations in the EDA and EDAR genes. Clinical testing of the EDARADD gene is not currently available. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options.
GeneTests lists the names of laboratories that are performing clinical genetic testing for hypohidrotic ectodermal dysplasia. To view the contact information for the clinical laboratories conducting testing for the X-linked form click here. To view the contact information for the clinical laboratories conducting testing for the autsomal dominant and autosomal recessive forms click here.
Many of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
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:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-hed. Accessed 2/18/2009.