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    Neurofibromatosis Type 2 (NF2)

    Important
    It is possible that the main title of the report Neurofibromatosis Type 2 (NF2) 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

    Disorder Subdivisions

    • None

    General Discussion

    Neurofibromatosis type 2 (NF2) is a rare genetic disorder that is primarily characterized by benign (noncancerous) tumors of the nerves that transmit sound impulses from the inner ears to the brain (bilateral acoustic neuromas vestibular schwannomas). Associated symptoms and findings may become evident during childhood, adolescence, or early adulthood. Depending on the exact location and size of the acoustic neuromas/vestibular schwannomas, such findings may include disturbances of balance and walking (gait); dizziness; headache; facial weakness, numbness, or pain; ringing in the ears (tinnitus); and/or progressive hearing loss.

    In some individuals with NF2, additional abnormalities may also be present. These may include loss of transparency of the lenses of the eyes (juvenile posterior subcapsular opacities), progressive visual impairment, or an increased risk of developing certain tumors of the brain and spinal cord (central nervous system).

    NF2 results from changes (mutations) of a gene on the long arm (q) of chromosome 22 (22q12.2). The NF2 gene regulates the production of a protein that functions as a tumor suppressor. In some individuals with NF2, the disorder is caused by new (sporadic) mutations of the gene that occur for unknown reasons. In other affected individuals, NF2 is inherited as an autosomal dominant trait.

    The term "neurofibromatosis" is sometimes also used to describe a second, distinct form of NF known as neurofibromatosis type I (NF1). More common than NF2, NF1 is primarily characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin, such as pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk or other regions. In contrast, in individuals with NF2, benign fibrous tumors of the skin (cutaneous neurofibromas) and areas of abnormal pigmentation are considered relatively rare. As with NF2, NF1 may be inherited as an autosomal dominant trait or appear to occur randomly due to new (sporadic) genetic changes.

    Resources

    Children's Tumor Foundation
    95 Pine Street
    16th Floor
    New York, NY 10005-4002
    Tel: (212)344-6633
    Fax: (212)747-0004
    Tel: (800)323-7938
    TDD: (212)344-6633
    Email: info@ctf.org
    Internet: http://www.ctf.org/

    Neurofibromatosis, Inc.
    213 S. Wheaton Ave.
    Wheaton, IL 60187
    USA
    Tel: (630)510-1115
    Fax: (630)510-8508
    Tel: (800)942-6825
    Email: admin@nfnetwork.org
    Internet: http://www.nfnetwork.org

    Better Hearing Institute
    1444 I Street NW
    Suite 700
    Washington, DC 20005
    United States
    Tel: (202)449-1100
    Fax: (703)684-6048
    Tel: (800)327-9355
    Email: mail@betterhearing.org
    Internet: http://www.betterhearing.org

    National Association of the Deaf
    8630 Fenton Street
    Suite 820
    Silver Springs, MD 20910
    USA
    Tel: (301)587-1788
    Fax: (301)587-1791
    TDD: (301)587-1789
    Email: NADinfo@nad.org
    Internet: http://www.nad.org

    Cedars-Sinai Medical Genetics Institute
    8700 Beverly Blvd
    PACT Suite 400
    Los Angeles, CA 90048
    USA
    Tel: (310)423-9914
    Fax: (310)423-2080
    Tel: (800)233-2771
    Internet: http://www.cedars-sinai.edu/Patients/Programs-and-Services/Medical-Genetics-Institute/

    Children's National Medical Center
    Genetics Department
    Attn: Kenneth Rosenbaum MD
    111 Michigan Ave. NW
    Suite 1950
    Washington, DC 20010
    Tel: (202)476-2327
    Tel: (888)884-2327
    Email: tbear@cnmc.org
    Internet: http://www.childrensnational.org/

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Massachusetts General Hospital Neurofibromatosis Clinic
    15 Parkman St. 8th Floor, Room 835
    Boston, MA 02114
    USA
    Tel: (617)724-7856
    Fax: (617)724-8769
    Email: SPlotkin@partners.org
    Internet: http://neurosurgery.mgh.harvard.edu/NFclinic/

    NF-2 Sharing Network
    10074 Cabachon Court
    Ellicott City, MD 21241
    Tel: (410)461-2245
    Fax: (410)461-2245
    TDD: (410)461-5213

    NIH/National Institute on Deafness and Other Communication Disorders
    31 Center Drive, MSC 2320
    Communication Avenue
    Bethesda, MD 20892-3456
    Tel: (301)402-0900
    Fax: (301)907-8830
    Tel: (800)241-1044
    TDD: (800)241-1105
    Email: nidcdinfo@nidcd.nih.gov
    Internet: http://www.nidcd.nih.gov

    Comer Children's Hospital - University of Chicago (Neurofibromatosis Clinic)
    Pediatric Neurology
    5721 S. Maryland Avenue, MC3055
    Chicago, IL 60637
    USA
    Tel: (773)834-8064
    Fax: (773)702-4786
    Email: cmacmill@peds.bsd.uchicago.edu
    Internet: http://www.uchicagokidshospital.org/specialties/neurology/patient-guides/neurofibromatosis/

    Acoustic Neuroma Association of Canada
    PO Box 193
    Buckthorn, Ontario, KOL 1JO
    Canada
    Tel: 8005612622
    Email: info@anac.ca
    Internet: http://www.anac.ca

    BC Neurofibromatosis Foundation
    Box 5339
    Victoria, BC, V8R 6S4
    Canada
    Tel: 800385BCNF (2263)
    Email: info@bcnf.bc.ca
    Internet: http://www.bcnf.bc.ca

    Rare Cancer Alliance
    1649 North Pacana Way
    Green Valley, AZ 85614
    USA
    Internet: http://www.rare-cancer.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    Alberta Neurofibromatosis Association
    636 Hunterfield Place NW
    Calgary
    Alberta, T2K 4L6
    Canada
    Tel: 4032754894
    Tel: 8669392263
    Email: pam@albertanf.org or cathy@albertanf.org
    Internet: http://www.albertanf.org

    American Academy of Audiology
    11730 Plaza America Drive, Suite 300
    Reston, VA 20190
    Tel: (703)790-8466
    Fax: (703)790-8631
    Tel: (800)222-2336
    Email: infoaud@audiology.org
    Internet: http://www.audiology.org

    Cancer.Net
    American Society of Clinical Oncology
    2318 Mill Road Suite 800
    Alexandria, VA 22314
    Tel: (571)483-1780
    Fax: (571)366-9537
    Tel: (888)651-3038
    Email: contactus@cancer.net
    Internet: http://www.cancer.net/

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    For a Complete Report:

    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 orphan@rarediseases.org

    Last Updated: 2/5/2013
    Copyright 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1998, 2000, 2001, 2003 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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