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Neurofibromatosis type 2


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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


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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


Listen
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.

Showing of 92 |
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
Showing of 92 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


Listen
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


Listen
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


Listen
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


Listen
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


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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 MedlinePlus Genetics.
  • 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


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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


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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


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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


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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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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


  1. Evans DG. Neurofibromatosis 2. GeneReviews. Updated March 15, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1201/.
  2. 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.
  3. 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.
  4. Evans DG. Neurofibromatosis type 2. Handb Clin Neurol. 2015; 132:87-96. https://pubmed.ncbi.nlm.nih.gov/26564072.
  5. 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.
  6. 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.
  7. 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.
  8. Evans DG. Neurofibromatosis type 2. UpToDate. April 2015;
  9. Slattery WH. Neurofibromatosis type 2. Otolaryngol Clin North Am. Jun 2015; 48(3):443-60. https://pubmed.ncbi.nlm.nih.gov/26043141.
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