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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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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