Neurofibromatosis type 2

Información en español Title

Other Names:

NF2; Neurofibromatosis central type; Acoustic schwannomas bilateral; NF2; Neurofibromatosis central type; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Acoustic neurinoma bilateral; Neurofibromatosis type II See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Nervous System Diseases; Rare Cancers See More

Summary Summary

Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Almost all people affected by NF2 develop bilateral (affecting both sides) vestibular schwannomas by age 30 years; however, other tumors of the central nervous system (the brain and spinal cord) are common, as well. The signs and symptoms vary from person to person and generally depend on the size, location and number of tumors. NF2 is caused by changes (mutations) in the NF2 gene and is inherited in an autosomal dominant manner. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. The treatment is based the signs and symptoms present in each person.^[1]^[2]^[3]

Last updated: 7/21/2015

Symptoms Symptoms

On average, the signs and symptoms associated with neurofibromatosis type 2 (NF2) begin to develop in the late teens or early twenties. Almost all people affected by NF2 develop bilateral (affecting both sides) vestibular schwannomas by age 30 years. These benign tumors, which are also called acoustic neuromas, may cause tinnitus, hearing loss, and/or balance dysfunction. Other tumors of the central nervous system (brain and spinal cord) are also commonly found with this condition. The signs and symptoms of NF2 vary from person to person and generally depend on the size, location and number of tumors. For example, complications of tumor growth may include changes in vision; numbness or weakness in the arms or legs; fluid buildup in the brain; and/or seizures.^[1]^[4]

People with NF2 may also develop cataracts in one or both eyes, often beginning in childhood. Cataracts often lead to decreased vision and other visual impairments (i.e. double vision, loss of color intensity, and/or seeing halos around light).^[4]

GeneReviews' Web site offers more specific information about the signs and symptoms associated with NF2. Please click on the link to access this resource.

Last updated: 7/21/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Ataxia	Very frequent (present in 80%-99% of cases)
Sensorineural hearing impairment	Very frequent (present in 80%-99% of cases)
Tinnitus	Very frequent (present in 80%-99% of cases)
Vertigo	Very frequent (present in 80%-99% of cases)
Cataract	Frequent (present in 30%-79% of cases)
Migraine	Frequent (present in 30%-79% of cases)
Abnormality of the retinal vasculature	Occasional (present in 5%-29% of cases)
Astrocytoma	Occasional (present in 5%-29% of cases)
Corneal opacity	Occasional (present in 5%-29% of cases)
Dysgraphia	Occasional (present in 5%-29% of cases)
Facial palsy	Occasional (present in 5%-29% of cases)
Gait disturbance	Occasional (present in 5%-29% of cases)
Increased intracranial pressure	Occasional (present in 5%-29% of cases)
Meningioma	Occasional (present in 5%-29% of cases)
Multiple cafe-au-lait spots	Occasional (present in 5%-29% of cases)
Occasional neurofibromas	Occasional (present in 5%-29% of cases)
Papule	Occasional (present in 5%-29% of cases)
Pseudoepiphyses of the metacarpals	Occasional (present in 5%-29% of cases)
Sensory neuropathy	Occasional (present in 5%-29% of cases)
Subcutaneous nodule	Occasional (present in 5%-29% of cases)
Visual impairment	Occasional (present in 5%-29% of cases)
Bilateral vestibular Schwannoma	Very rare (present in 1%-4% of cases)
Cafe-au-lait spot	Very rare (present in 1%-4% of cases)
Ependymoma	Very rare (present in 1%-4% of cases)
Headache	Very rare (present in 1%-4% of cases)
Hearing impairment	Very rare (present in 1%-4% of cases)
Juvenile cortical cataract	Very rare (present in 1%-4% of cases)
Juvenile posterior subcapsular lenticular opacities	Very rare (present in 1%-4% of cases)
Peripheral Schwannoma	Very rare (present in 1%-4% of cases)
Retinal hamartoma	Very rare (present in 1%-4% of cases)
Unilateral vestibular Schwannoma	Very rare (present in 1%-4% of cases)
Autosomal dominant inheritance	-
Epiretinal membrane	-
Peripheral neuropathy	-

Last updated: 9/1/2017

Cause Cause

Neurofibromatosis type 2 is caused by changes (mutations) in the NF2 gene. NF2 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF2 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 2.^[5]

People with neurofibromatosis type 2 are typically born with one mutated copy of the NF2 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF2 gene must be altered. The mutation in the second copy of the NF2 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF2 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 2.^[5]

Last updated: 7/21/2015

Inheritance Inheritance

Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF2. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.^[1]

Last updated: 7/21/2015

Diagnosis Diagnosis

The diagnosis of neurofibromatosis type 2 (NF2) is usually based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the NF2 gene is available; however, this testing may not be informative in all people affected by NF2, particularly those who are mosaic for the condition.^[1]

GeneReviews' Web site offers more specific information about the diagnostic criteria of NF2 and genetic testing for the condition. Please click on the link to access this resource.

Last updated: 7/21/2015

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

People with neurofibromatosis type 2 (NF2) are generally monitored periodically for the development of associated tumors and other health problems. This may include an MRI of the brain and spinal cord; hearing and speech evaluations; and an eye exam.^[2]^[1]

The treatment of NF2 depends on the signs and symptoms present in each person. For example, vestibular schwannomas are typically slow-growing tumors so they may be observed for a period of time before treatment becomes necessary. When they begin to cause symptoms, vestibular schwannomas are usually treated with surgery and less frequently, with radiation therapy. Other tumors associated with NF2 are also treated surgically, although chemotherapy and/or radiation therapy may also be recommended in rare circumstances.^[2]^[1]

Hearing preservation and augmentation are also important in the management of people with NF2.^[1]

Medscape Reference's Web site offers more specific information on the treatment and management of NF2. Please click on the link to access this resource.

Last updated: 7/21/2015

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Prognosis Prognosis

The long-term outlook (prognosis) for people with neurofibromatosis type 2 (NF2) varies based on a number of factors, including the age at which symptoms develop; the degree of hearing deficit; and the number and location of various tumors. On average, people affected by NF2 begin showing symptoms of the condition in their late teens to early twenties (onset range: birth to 70 years) and almost all affected people develop bilateral (affecting both sides) vestibular schwannomas by age 30 years. The size, location, and number of tumors can vary significantly from person to person. Although the tumors associated with NF2 are generally benign, they can interfere with quality of life and lead to early mortality due to their location and quantity. The average age of death in people with NF2 is 36 years. However, survival is improving with earlier diagnosis and better treatment in specialty centers.^[1]^[2]^[3]

Last updated: 7/21/2015

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Neurofibromatosis type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

The Children's Tumor Foundation, which advocates for research into neurofibromatosis (NF), launched an NF Registry in 2012. The purpose of this registry is to find people who may be eligible for clinical trials or other research studies being conducted in the field of neurofibromatosis and to determine the commonality of specific NF characteristics.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Neurofibromatosis Network
213 S. Wheaton Ave.
Wheaton, IL 60187
Toll-free: 800-942-6825
Telephone: 630-510-1115
Fax: 630-510-8505
E-mail: admin@nfnetwork.org
Website: http://www.nfnetwork.org/
The British Columbia Neurofibromatosis Foundation
203-1001 Cloverdale
Victoria, BC, Intl V8X 4C9
Canada
Telephone: 205-370-7597
Website: http://www.bcnf.bc.ca
The Children's Tumor Foundation
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 800-323-7938
Telephone: 212-344-6633
Fax: 212-747-0004
E-mail: info@ctf.org/
Website: http://www.ctf.org/
The Neuro Foundation
Quayside House
38 High Street, Kingston-on-Thames
SURREY KT1 1HL
United Kingdom
Telephone: 44(0)208 439 1234
Fax: 44(0)208 439 1200
E-mail: nfa@zetnet.co.uk
Website: http://www.nfauk.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

The Neurofibromatosis Network provides a tool for locating a neurofibromatosis specialist in your area. Click on Neurofibromatosis Network to access the tool.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference (GHR) contains information on Neurofibromatosis type 2. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis type 2. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Developing Endpoints to Facilitate Clinical Trials in Rare Diseases Tuesday, November 17, 2015 - Friday, November 20, 2015
Location: Bethesda, MD
Description: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration holds a winter annual conference each year to develop and to discuss novel outcome measures for clinical trials of neurofibromatosis and schwannomatosis, a group of related tumor suppressor syndromes. The annual winter conference has been very successful in stimulating international collaboration among the many different specialists involved in the treatment of these rare conditions. The 2015 conference theme is to develop consensus-driven outcome measures for clinical trials in patients with rare disease such as neurofibromatosis and schwannomatosis.

Contact: Dr. Rashmi Gopal-Srivistava(301) 402-4336

Co-funding Institute(s):
Children's Tumor Foundation 2014 Neurofibromatosis (NF) Conference Saturday, June 7, 2014 - Tuesday, June 10, 2014
Location: Washington , D.C.
Description: In order to stimulate exchange between basic scientists and clinical investigators, a number of sessions will be organized to discuss preclinical models and findings side by side with clinical findings and current management in patients. The hope is that this exchange will promote the translation of preclinical findings into clinical trials. Moreover, invited speakers outside of the NF community will add to the scientific diversity and stimulate discussions and promote new collaborations.

Contact: Jill A. Morris, Ph.D.,(301) 496-5745jill.morris@nih.gov

Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research

Other Conferences

Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
Monday, September 30, 2013 - Tuesday, October 01, 2013
Location: Radisson Blu Hotel, Cardiff, Wales
Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.

Related Diseases Related Diseases

The following diseases are related to Neurofibromatosis type 2. If you have a question about any of these diseases, you can contact GARD.

Neurofibromatosis

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