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. Childhood symptoms include skin growths and eye findings. Almost all people with NF2 develop vestibular schwannomas affecting both ears by age 30. Other tumors of the central nervous system (the brain and spinal cord), skin and eye are also common. The signs and symptoms vary from person to person. The severity depends 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. It is diagnosed based on a clinical examination and the symptoms. Genetic testing may be helpful. The treatment is based on managing the signs and symptoms and may include surgery and medications.^[1]^[2]^[3]

Last updated: 5/26/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with Neurofibromatosis type 2 (NF2). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:^[1]^[2]

Benign tumors along the nerves going from the inner ear to the brain (vestibular schwannomas)
- Ringing in the ear
- Hearing loss
- Balance problems
Benign tumors of the central nervous system (meningiomas)
- Muscle weakness or numbness
- Dizziness
- Seizures
Retinal tumors (hamartomas)
Clouding of the lens (cataracts)
Skin plaques

Children with NF2 may develop plaque-like lesions of the skin, eye findings including cataracts and retina changes, and nerve damage. By age 30, most individuals with NF2 develop vestibular schwannomas which cause ringing in the ears, dizziness and balance problems. Other symptoms that may develop include central nervous system tumors such as schwannomas and meningiomas. The severity of NF2 depends on the size and number of tumors that occur.^[1]^[2]^[4]

Last updated: 5/26/2020

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
Neuroma	Nerve tumor Pinched nerve [ more ]	0030430
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
Bilateral vestibular Schwannoma		0009589
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
Hyperesthesia		0100963
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
Intracranial meningioma		0100009
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Motor delay		0001270
Myelopathy		0002196
Overbite		0011094
Peripheral Schwannoma		0009593
Posterior subcapsular cataract		0007787
Sensorineural hearing impairment		0000407
Short stature	Decreased body height Small stature [ more ]	0004322
Slurred speech		0001350
Spastic dysarthria		0002464
Spastic paraparesis		0002313
Specific learning disability		0001328
Spinal cord tumor	Tumor of the spinal cord	0010302
Upper limb muscle weakness	Decreased arm strength Weak arm [ more ]	0003484
5%-29% of people have these symptoms
Abnormal thumb morphology	Abnormality of the thumb Abnormality of the thumbs Thumb deformity [ more ]	0001172
Abnormality of the nares	Abnormality of the nostrils	0005288
Abnormality of the optic nerve	Optic nerve issue	0000587
Amblyopia	Lazy eye Wandering eye [ more ]	0000646
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Anxiety	Excessive, persistent worry and fear	0000739
Blindness		0000618
Brain stem compression		0002512
Clinodactyly	Permanent curving of the finger	0030084
Cortical cataract		0100019
Diplopia	Double vision	0000651
Distal amyotrophy	Distal muscle wasting	0003693
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Dysarthria	Difficulty articulating speech	0001260
Emotional lability	Emotional instability	0000712
Ependymoma		0002888
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Epiretinal membrane		0100014
Facial palsy	Bell's palsy	0010628
Foot dorsiflexor weakness	Foot drop	0009027
Genu valgum	Knock knees	0002857
Hallucinations	Hallucination Sensory hallucination [ more ]	0000738
Hemiparesis	Weakness of one side of body	0001269
Hoarse voice	Hoarseness Husky voice [ more ]	0001609
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Mononeuropathy	Single damaged nerve	0009831
Occasional neurofibromas		0009595
Panic attack		0025269
Pes cavus	High-arched foot	0001761
Polyneuropathy	Peripheral nerve disease	0001271
Postural instability	Balance impairment	0002172
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Psychosis		0000709
Retinal hamartoma		0009594
Seizure		0001250
Sensory impairment		0003474
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Spastic gait	Spastic walk	0002064
Speech apraxia		0011098
Spinal meningioma		0100010
Tinnitus	Ringing in ears Ringing in the ears [ more ]	0000360
Unsteady gait	Unsteady walk	0002317
Visual loss	Loss of vision Vision loss [ more ]	0000572
Wrist drop		0031189
1%-4% of people have these symptoms
Aphasia	Difficulty finding words Losing words Loss of words [ more ]	0002381
Astrocytoma		0009592
Ataxia		0001251
Cafe-au-lait spot		0000957
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hydronephrosis		0000126
Juvenile posterior subcapsular lenticular opacities		0007935
Meningioma		0002858
Remnants of the hyaloid vascular system		0007968
Unilateral vestibular Schwannoma		0009590
Vertigo	Dizzy spell	0002321
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Headache	Headaches	0002315
Peripheral neuropathy		0009830

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

Last updated: 11/1/2020

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

Cause Cause

Neurofibromatosis type 2 is caused by a NF2 gene that is not working correctly.^[1] Genetic changes known as DNA variants can impact how genes work. Pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Last updated: 5/26/2020

Inheritance Inheritance

Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant pattern.^[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo), and there is no history of this condition in the family. This happens in about half of the cases of NF2.^[1]

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 5/26/2020

Diagnosis Diagnosis

The diagnosis of neurofibromatosis type 2 (NF2) is based on clinical exam, the symptoms, and imaging studies. Genetic testing for a change (variant) in the NF2 gene may be helpful.^[1] Diagnostic criteria for this condition is available.^[5]^[6]

Last updated: 5/26/2020

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

The treatment of neurofibromatosis type 2 (NF2) is based on managing the signs and symptoms present in each person. Surgery and gamma knife procedures may be used to treat and remove vestibular schwannomas.^[7] Other tumors associated with NF2 may also be treated surgically, although chemotherapy and/or radiation therapy may also be recommended.^[1]^[8]

Specialists involved in the care of someone with NF2 include:

Dermatologist
Neurologist
Otolaryngologist
Ophthmalogist
Audiologist
Oncologist
Medical geneticist

Last updated: 5/26/2020

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.

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.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Neurofibromatosis type 2. This website is maintained by the National Library of Medicine.
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

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GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Evans DG. Neurofibromatosis 2. GeneReviews. Updated March 15, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1201/.
Ardern-Holmes S, Fisher G, North K. Neurofibromatosis type 2: Presentation, Major Complications, and Management, with a focus on the pediatric age group. J Child Neurol. Jan 2017; 32(1):9-22. https://www.ncbi.nlm.nih.gov/27655473.
Halliday D, Parry A, Evans DG. Neurofibromatosis type 2 and related disorders. Curr Opin Oncol. Nov 2019; 31(6):562-567. https://www.ncbi.nlm.nih.gov/pubmed/31425178.
Evans DG. Neurofibromatosis type 2. Handb Clin Neurol. 2015; 132:87-96. https://pubmed.ncbi.nlm.nih.gov/26564072.
Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis [published correction appears in Neurology. 2017 Jul 11;89(2):215].. Neurology. 2017;88(1):87-92.. 2017; 88(1):87-92. https://pubmed.ncbi.nlm.nih.gov/27856782.
Evans DG, King AT, Bowers NL, et al. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.. Genet Med. 2019;21(7):1525-1533.. 2019; 21(7):1525-1533. https://pubmed.ncbi.nlm.nih.gov/30523344.
Lu VM, Ravindran K, Graffeo CS, et al. Efficacy and safety of bevacizumab for vestibular schwannoma in neurofibromatosis type 2: a systematic review and meta-analysis of treatment outcomes. J Neurooncol. 2019; 144(2):239-248. https://pubmed.ncbi.nlm.nih.gov/31254266.
Evans DG. Neurofibromatosis type 2. UpToDate. April 2015;
Slattery WH. Neurofibromatosis type 2. Otolaryngol Clin North Am. Jun 2015; 48(3):443-60. https://pubmed.ncbi.nlm.nih.gov/26043141.