Neurofibromatosis Type 2 (NF-2)

Synonyms

• Bilateral Acoustic Neurofibromatosis
• Central Form, Neurofibromatosis
• NF-2
• Vestibular Schwannoma Neurofibromatosis

Disorder Subdivisions

• None

General Discussion

Neurofibromatosis Type 2 (NF-2) 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 NF-2, 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).

NF-2 results from changes (mutations) of a gene on the long arm (q) of chromosome 22 (22q12.2). The NF-2 gene regulates the production of a protein that functions as a tumor suppressor. In some individuals with NF-2, the disorder is caused by new (sporadic) mutations of the gene that occur for unknown reasons. In other affected individuals, NF-2 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 (NF-1). More common than NF-2, NF-1 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 NF-2, benign fibrous tumors of the skin (cutaneous neurofibromas) and areas of abnormal pigmentation are considered relatively rare. As with NF-2, NF-1 may be inherited as an autosomal dominant trait or appear to occur randomly due to new (sporadic) genetic changes.
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Resources

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

Neurofibromatosis, Inc.
P.O. Box 18246
Minneapolis, MN 55418-0246
USA
Tel: 3019184600
Tel: 8009426825
Email: info@nfinc.org
Internet: http://www.nfinc.org

Better Hearing Institute
515 King Street, Suite 420
Suite 420
Alexandria, VA 22314
United States
Tel: 7036843391
Fax: 7036846048
Tel: 8003279355
Email: mail@betterhearing.org
Internet: http://www.betterhearing.org

National Association of the Deaf
814 Thayer Avenue
Suite 250
Silver Spring, MD 20910-4500
USA
Tel: 3015871788
Fax: 3015871791
TDD: 3015871789
Email: NADinfo@nad.org
Internet: http://www.nad.org

Cedars-Sinai Medical Genetics-Birth Defects Center
Medical Genetics
444 S. San Vincente Blvd
Suite 1001
Los Angeles, CA 90048
USA
Tel: 3104239914
Fax: 3104239939
Internet: http://www.cedars-sinai.edu/genetics

Children's National Medical Center
Attn: Roger Packer, MD,
111 Michigan Ave. NW
Washington, DC 20010
Tel: (202)884-2390

NIH/National Institute on Deafness and Other Communication Disorders (Balance)
National Temporal Bone, Hearing
and Balance Pathology Resource Registry
Massachusetts Eye & Ear Infirmary
243 Charles Street
Boston, MA 02114-3096
Fax: (617)573-3838
Tel: (800)822-1327
TDD: (888)561-3277
Email: TBRegistry@meei.harvard.edu
Internet: http://www.tbregistry.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Massachusetts General Hospital Neurofibromatosis Clinic
Attn: Scott Plotkin
55 Fruit Street
Yawkey Building
Boston, MA 02114
USA
Tel: 6177247856
Fax: 6177262353
Email: mpisa@partners.org
Internet: http://www.neurosurgery.mgh.harvard.edu/nfclinic

NF-2 Sharing Network
Paul Mendelsohn
10074 Cabachon Court
Ellicott City, MD 21041-2330
Tel: (410)461-2245
Fax: (410)461-2245
TDD: (410)461-5213

University of Chicago Neurofibromatosis Clinic
5839 South Maryland Avenue
MC 3055
Chicago, IL 60637
USA
Tel: 7732032344
Fax: 7737024786
Email: tonsgard@midway.uchicago.edu

Acoustic Neuroma Association of Canada
Box 369
Edmonton
Alberta, T5J 2J6
Canada
Tel: 7804283384
Fax: 7804283909
Tel: 8005612622
Email: info@anac.ca
Internet: http://www.anac.ca

BC Neurofibromatosis Foundation
203-1001 Cloverdale
Victoria, BC, Intl V8X 4C9
Canada
Tel: 205-370-7597
Fax: 205-370-7598
Tel: 800-385-BCNF (2263)
Email: bcnf@bcnf.bc.ca
Internet: http://www.bcnf.bc.ca

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Alberta Neurofibromatosis Association
Box12 Site10 RR3
Rocky Mountain House
Alberta, T4T 2A3
Canada
Tel: 403-722-3389
Tel: 866-939-2263

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

American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Tel: (847)378-0500
Fax: (847)378-0600
Tel: (888)566-2267
Email: info@aans.org
Internet: http://www.NeurosurgeryToday.org and http://www.AANS.org

People Living With Cancer
1900 Duke Street
Suite 200
Alexandria, VA 22314
Tel: (703)299-0150
Fax: (703)684-8618
Tel: (888)651-3038
Email: contactus@plwc.org
Internet: http://www.plwc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 2/7/2003
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