Rosenberg Chutorian Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Rosenberg Chutorian Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Charcot-Marie-Tooth neuropathy X type 5
- Charcot-Marie-Tooth, X-linked recessive 5 (CMTX5)
- optic atrophy, polyneuropathy, and deafness
- polyneuropathy-deafness-optic atrophy
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.
American Academy of Audiology
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Better Hearing Institute
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Genetic and Rare Diseases (GARD) Information Center
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Hearing Loss Association of America
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March of Dimes Birth Defects Foundation
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NIH/National Institute of Child Health and Human Development
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NIH/National Institute of Neurological Disorders and Stroke
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- Website: http://www.ninds.nih.gov/
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 12/12/1969
Copyright 2009 National Organization for Rare Disorders, Inc.
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