Other Names for this Disease
- Albinism-deafness of Tietz
- Hypopigmentation/deafness of Tietz
- Tietz albinism-deafness syndrome
Your QuestionMy 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?
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Questions on this page
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.
- MITF. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene=mitf. Accessed 1/28/2010.
- Smith SD, Kelley PM, Kenyon JB, Hoover D. J Med Genet. 2000; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734605/pdf/v037p00446.pdf. Accessed 1/28/2010.
- Tietz syndrome. Orphanet. 2003; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10575&Disease_Disease_Search_diseaseGroup=TIETZ-&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Tietz-syndrome&title=Tietz-syndrome&search=Disease_Search_Simple. Accessed 1/28/2010.