National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Tietz syndrome

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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?

The following information may help to address your question:


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?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 8/23/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000; 37:446-448. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734605/pdf/v037p00446.pdf.
  2. Tietz Syndrome. OMIM. 2015; http://omim.org/entry/103500.