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Neurofibromatosis Type 2 (NF2)

National Organization for Rare Disorders, Inc.

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

  • Bilateral Acoustic Neurofibromatosis
  • Central Form, Neurofibromatosis
  • Vestibular Schwannoma Neurofibromatosis
  • NF2

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
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