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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
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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.

What is Tietz syndrome?

Tietz syndrome is a genetic condition characterized by profound hearing loss from birth, fair skin, and light-colored hair.[1] This condition is caused by mutations in the MITF gene. It is inherited in an autosomal dominant fashion with complete penetrance.[2]  
Last updated: 1/28/2010

What are the signs and symptoms of Tietz syndrome?

Individuals with Tietz syndrome are born 'snow white'. They gradually gain some pigmentation and have fair skin and blond to white hair as adults with white eyebrows and eyelashes. All of them have blue eyes. Hearing loss is always bilateral, congenital, sensorineural and profound.[2][3] Unlike other syndromes with pigmentary anomalies and deafness which characteristically have patchy depigmentation, individuals with Tietz syndrome have generalized hypopigmentation.[2]  
Last updated: 1/28/2010

How is Tietz syndrome diagnosed?

Individuals with suspected Tietz syndrome should be evaluated at a genetics clinic. During a genetics evaluation, a clinical geneticist will determine if, based on a variety of factors including clinical symptoms, genetic testing is warranted.   
Last updated: 1/28/2010

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:  

  • GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  • The National Society of 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 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.
Last updated: 12/13/2012