Rosenberg Chutorian Syndrome
National Organization for Rare Disorders, Inc.
- optic atrophy, polyneuropathy, and deafness
- polyneuropathy-deafness-optic atrophy
- Charcot-Marie-Tooth, X-linked recessive 5 (CMTX5)
- Charcot-Marie-Tooth neuropathy X type 5
Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the central nervous system (peripheral neuropathy). The arms and legs are most often affected by peripheral neuropathy. Rosenberg-Chutorian syndrome is inherited as an X-linked disorder with occasional mild symptoms present in the female carrier.
At least two other disorders are characterized by optic atrophy, hearing loss and peripheral neuropathy: Iwashita syndrome and Hagemoser syndrome. Most researchers consider these two disorders and Rosenberg-Chutorian syndrome separate disorders.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
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New York, NY 10022-1202
Better Hearing Institute
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Washington, DC 20005
NIH/National Institute of Neurological Disorders and Stroke
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Bethesda, MD 20824
NIH/National Institute of Child Health and Human Development
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
Hearing Loss Association of America
7910 Woodmont Avenue
Bethesda, MD 20814
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Last Updated: 11/3/2009
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