Neurofibromatosis 2

National Organization for Rare Disorders, Inc.

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

Disorder Subdivisions

  • None

General Discussion

Summary

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

In some individuals with NF2, additional abnormalities may be present. These may include clouding of the lenses of the eyes (juvenile posterior subcapsular opacities), progressive visual impairment, or an increased risk of developing certain tumors of the lining of the brain (meningiomas) 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 sporadic mutations of the gene that occur for unknown reasons. In other affected individuals, NF2 is inherited as an autosomal dominant trait.

Introduction

The term "neurofibromatosis" is also used to describe a second, distinct form of NF known as neurofibromatosis 1 (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 (café-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 multiple areas of abnormal color (pigmentation) are considered relatively uncommon. As with NF2, NF1 may be inherited as an autosomal dominant trait or appear to occur randomly due to new (sporadic) genetic changes.

Supporting Organizations

Acoustic Neuroma Association of Canada

PO Box 193
Buckthorn, Ontario, KOL 1JO
Canada
Tel: 8005612622
Email: info@anac.ca
Website: http://www.anac.ca

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
Website: http://www.audiology.org

BC Neurofibromatosis Foundation

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

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
Website: http://www.betterhearing.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
Website: http://www.cancer.net/

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
Website: http://www.cedars-sinai.edu/Patients/Programs-and-Services/Medical-Genetics-Institute/

Children's National Medical Center

Genetics Department
Attn: Kenneth Rosenbaum MD
Washington, DC 20010
Tel: (202)476-2327
Tel: (888)884-2327
Email: tbear@cnmc.org
Website: http://www.childrensnational.org/

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
Email: info@ctf.org
Website: http://www.ctf.org/

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
Website: http://www.uchicagokidshospital.org/specialties/neurology/patient-guides/neurofibromatosis/

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
Website: http://rarediseases.info.nih.gov/GARD/

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
Website: http://www.hearingloss.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
Website: http://www.letthemhear.org

Massachusetts General Hospital Neurofibromatosis Clinic

15 Parkman St. 8th Floor, Room 835
Boston, MA 2114
USA
Tel: (617)724-7856
Fax: (617)724-8769
Email: SPlotkin@partners.org
Website: 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

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
Website: http://www.ninds.nih.gov/

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
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

National Association of the Deaf

8630 Fenton Street
Suite 820
Silver Springs, MD 20910
USA
Tel: (301)587-1788
Fax: (301)587-1791
Email: NADinfo@nad.org
Website: http://www.nad.org

Neurofibromatosis Network

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

Rare Cancer Alliance

1649 North Pacana Way
Green Valley, AZ 85614
USA
Website: http://www.rare-cancer.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:  12/26/1969
Copyright  2015 National Organization for Rare Disorders, Inc.