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.
Synonyms Back to top
- optic atrophy, polyneuropathy, and deafness
- polyneuropathy-deafness-optic atrophy
- Charcot-Marie-Tooth, X-linked recessive 5 (CMTX5)
- Charcot-Marie-Tooth neuropathy X type 5
Disorder Subdivisions Back to top
General Discussion Back to top
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.
Resources Back to top
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
111 E 59th St
New York, NY 10022-1202
Better Hearing Institute
1444 I Street NW
Washington, D.C. 20005
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
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
For a Complete Report Back to top
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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 11/3/2009
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