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Genetic syndromes and other conditions

Neurofibromatosis type 2 (NF2)

An inherited disease in which non-cancerous growths develop in the nervous system. A growth most often forms on the nerve of the inner ear. It can cause hearing loss and balance problems.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Genetic syndromes and other conditions” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The NF2 gene makes a protein that stops cells from multiplying too much. When the gene does not work, the cells that wrap around the nerves multiply too much. Growths form on the hearing nerve, the lining of the brain and the spinal cord. Symptoms usually begin in the teenage years or in the twenties.

Which symptoms can occur?

Symptoms vary depending on where the growth is.

  • Hearing loss (common)
  • Ringing in the ears
  • Balance problems
  • Headache and nausea
  • Weakness in the face (sometimes)
  • Numbness or weakness in the hands and feet
  • Clouding of the lens of the eye in childhood, called cataract
  • Raised patches on the skin

How is it diagnosed?

Hearing and eye tests are done. The brain and spinal cord are scanned with MRI. If there is NF2 in the family, a genetic test may also be done.

Treatment and care

There is no treatment yet that cures the disease completely. A hearing aid or cochlear implant supports hearing. In some people, a medicine treatment that can stop the growth of a tumor is used. Growths that pose a risk are removed with surgery or treated with radiation therapy. Physiotherapy and regular MRI follow-up are important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is passed on through dominant inheritance. For each child of a person with NF2, the chance of passing it on is 1 in 2. About half of cases start with a new gene change, with no family history. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Neurofibromatosis type 2 · NHS: Neurofibromatosis type 2 (NF2)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal dominant
When does it usually start?
Any age
Gene(s) involved
NF2

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about NF2

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 9 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:637 · ICD-11 LD2D.11

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.