Neurofibromatosis Type 2 (NF-2) - General Discussion

SYMPTOMS & TREATMENTS

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.

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: 12/4/2009
Copyright 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1998, 2000, 2001, 2003National Organization for Rare Disorders, Inc.

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