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Genetic and Rare Diseases Information Center (GARD)

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Tietz syndrome


Other Names for this Disease

  • Albinism-deafness of Tietz
  • Hypopigmentation/deafness of Tietz
  • Tietz albinism-deafness syndrome
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

My adopted daughter has blue eyes, dark reddish hair and is profoundly deaf. Her skin is pale, but not typical "albinic". I wonder if she might have Tietz syndrome. How is this condition diagnosed?

Our Answer

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

How is Tietz syndrome diagnosed?

A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.[1][2]

Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene.[1] It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
Last updated: 11/19/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. 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:
  • GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
  • The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Last updated: 11/19/2014

References
Other Names for this Disease
  • Albinism-deafness of Tietz
  • Hypopigmentation/deafness of Tietz
  • Tietz albinism-deafness syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.