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

This disease is grouped under:

Neurofibromatosis

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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Ataxia		0001251
Sensorineural hearing impairment		0000407
Tinnitus	Ringing in ears Ringing in the ears [ more ]	0000360
Vertigo	Dizzy spell	0002321
30%-79% of people have these symptoms
Abnormal cerebellum morphology	Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly [ more ]	0001317
Abnormal hand morphology	Abnormal shape of hand	0005922
Babinski sign		0003487
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Constipation		0002019
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dysuria	Painful or difficult urination	0100518
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Impaired vibratory sensation	Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Impaired vibratory sense [ more ]	0002495
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Migraine	Intermittent migraine headaches Migraine headache Migraine headaches [ more ]	0002076
Motor delay		0001270
Overbite		0011094
Short stature	Decreased body height Small stature [ more ]	0004322
Slurred speech		0001350
Spastic dysarthria		0002464
Spastic paraparesis		0002313
Specific learning disability		0001328
Upper limb muscle weakness	Decreased arm strength Weak arm [ more ]	0003484
5%-29% of people have these symptoms
Abnormal retinal vascular morphology	Abnormality of retina blood vessels	0008046
Abnormal thumb morphology	Abnormality of the thumb Abnormality of the thumbs Thumb deformity [ more ]	0001172
Abnormality of the nares	Abnormality of the nostrils	0005288
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Anxiety	Excessive, persistent worry and fear	0000739
Astrocytoma		0009592
Clinodactyly	Permanent curving of the finger	0030084
Corneal opacity		0007957
Distal amyotrophy	Distal muscle wasting	0003693
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Dysgraphia		0010526
Emotional lability	Emotional instability	0000712
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Facial palsy	Bell's palsy	0010628
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Genu valgum	Knock knees	0002857
Hallucinations	Hallucination Sensory hallucination [ more ]	0000738
Hoarse voice	Hoarseness Husky voice [ more ]	0001609
Increased intracranial pressure	Rise in pressure inside skull	0002516
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Meningioma		0002858
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Multiple cafe-au-lait spots		0007565
Occasional neurofibromas		0009595
Panic attack		0025269
Papule		0200034
Pes cavus	High-arched foot	0001761
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Pseudoepiphyses of the metacarpals		0009193
Psychosis		0000709
Sensory neuropathy	Damage to nerves that sense feeling	0000763
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Spastic gait	Spastic walk	0002064
Speech apraxia		0011098
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
1%-4% of people have these symptoms
Bilateral vestibular Schwannoma		0009589
Cafe-au-lait spot		0000957
Cortical cataract		0100019
Ependymoma		0002888
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hydronephrosis		0000126
Juvenile posterior subcapsular lenticular opacities		0007935
Retinal hamartoma		0009594
Seizures	Seizure	0001250
Unilateral vestibular Schwannoma		0009590
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Epiretinal membrane		0100014
Headache	Headaches	0002315
Peripheral neuropathy		0009830
Peripheral Schwannoma		0009593

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2019

Do you have updated information on this disease? We want to hear from you.

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

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

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

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis of NF2 is schwannomatosis. Visit the Orphanet disease page for more information.

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 related to 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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Neurofibromatosis type 2. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Neurofibromatosis type 2:
NF Registry

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

Children's Tumor Foundation (CTF)
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 1-800-323-7938
Telephone: +1-212-344-6633
Fax: +1-212-747-0004
E-mail: info@ctf.org
Website: https://www.ctf.org/
Nerve Tumours UK
1st Floor
44 Coombe Lane
London, SW20 0LA United Kingdom
Toll-free: 07939 046 030 (Helpline)
Telephone: 44(0)208 439 1234
E-mail: info@nervetumours.org.uk
Website: https://nervetumours.org.uk
Neurofibromatosis Network
213 S. Wheaton Ave.
Wheaton, IL 60187
Toll-free: 1-800-942-6825
Telephone: +1-630-510-1115
Fax: +1-630-510-8505
E-mail: admin@nfnetwork.org
Website: https://www.nfnetwork.org/
Tumour Foundation of BC
19172 Fourth Avenue PO
Vancouver, BC, V6K 4R8 Canada
Toll-free: 1-800-385-2263
E-mail: info@tumourfoundation.ca
Website: https://www.tumourfoundation.ca

Do you know of an organization? We want to hear from you.

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

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.
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

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.

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