Neurofibromatosis Type 2 (NF2)
National Organization for Rare Disorders, Inc.
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.
- Bilateral Acoustic Neurofibromatosis
- Central Form, Neurofibromatosis
- Vestibular Schwannoma Neurofibromatosis
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.
Children's Tumor Foundation
95 Pine Street
New York, NY 10005-4002
213 S. Wheaton Ave.
Wheaton, IL 60187
Better Hearing Institute
1444 I Street NW
Washington, DC 20005
National Association of the Deaf
8630 Fenton Street
Silver Springs, MD 20910
Cedars-Sinai Medical Genetics Institute
8700 Beverly Blvd
PACT Suite 400
Los Angeles, CA 90048
Children's National Medical Center
Attn: Kenneth Rosenbaum MD
111 Michigan Ave. NW
Washington, DC 20010
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Massachusetts General Hospital Neurofibromatosis Clinic
15 Parkman St. 8th Floor, Room 835
Boston, MA 02114
NF-2 Sharing Network
10074 Cabachon Court
Ellicott City, MD 21241
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Bethesda, MD 20892-3456
Comer Children's Hospital - University of Chicago (Neurofibromatosis Clinic)
5721 S. Maryland Avenue, MC3055
Chicago, IL 60637
Acoustic Neuroma Association of Canada
PO Box 193
Buckthorn, Ontario, KOL 1JO
BC Neurofibromatosis Foundation
Victoria, BC, V8R 6S4
Tel: 800385BCNF (2263)
Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Alberta Neurofibromatosis Association
636 Hunterfield Place NW
Alberta, T2K 4L6
Email: email@example.com or firstname.lastname@example.org
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
American Society of Clinical Oncology
2318 Mill Road Suite 800
Alexandria, VA 22314
Hearing Loss Association of America
7910 Woodmont Avenue
Bethesda, MD 20814
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 email@example.com
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.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.