NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors.
NF2-related schwannomatosis, formerly known as neurofibromatosis type 2 (NF2), is a genetic condition that affects your nervous system. A genetic change tells your body to overproduce cells that form tumors. These benign (noncancerous) tumors commonly grow in or on:
NF2 is a type of neurofibromatosis, which is a group of conditions that affect your skin and nervous system.
NF2-related schwannomatosis (neurofibromatosis type 2) affects an estimated 1 in 33,000 births worldwide annually. It makes up about 3% of all diagnosed neurofibromatosis cases.
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Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include:
Symptoms caused by tumors outside of your auditory nerves include:
Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.
Different types of tumors happen with NF2-related schwannomatosis (neurofibromatosis type 2):
A genetic change of the neurofibromin 2 (NF 2) gene causes NF2. This is why the condition is known as NF2-related schwannomatosis. This gene helps in the production of merlin. It’s a protein that stops tumors from forming (tumor-suppressor).
When your body doesn’t have the proper instructions to create neurofibromin 2, some cells in your body won’t divide and replicate as they’re supposed to. Instead, your cells make too many copies of themselves. This causes tumors. Tumors are an abnormal cluster of cells that form a solid mass of tissue.
You can inherit the genetic change from one of your biological parents in an autosomal dominant pattern during conception. Many people don’t have a history of this genetic change in their biological family history, so they develop a new genetic change that occurs spontaneously during conception.
You may be more at risk of developing neurofibromatosis type 2 if you have a history of the condition in your biological family.
Complications of NF2 include:
Some NF2 tumors can develop into cancer.
A healthcare provider will diagnose NF2-related schwannomatosis (neurofibromatosis type 2) after a physical exam and testing. During the exam, they’ll look for signs of the condition, learn more about your family medical history and ask questions about your symptoms.
Imaging tests like an MRI can help them find tumors in your nervous system and skin. Other tests may include:
While there isn’t currently a cure for neurofibromatosis type 2, there have been multiple advances in diagnosing and treating NF2-related tumors. Your healthcare provider can direct you toward the best treatment available for your condition. Treatment could include:
Your provider will offer treatment that’s ideal for you, as treatment can vary from person to person. In some cases, your healthcare provider may monitor how tumors affect you without treating them if they don’t cause symptoms that interfere with your daily routine. You’ll likely need at least one physical exam, imaging test, hearing test and vision test per year to keep track of how symptoms affect you.
It’s very important that your NF2 care is treated by a multidisciplinary team with experience caring for individuals with NF2. The treatment team includes:
Side effects vary based on the type of treatment. The benefits of treatment must outweigh the risks for each option.
There’s a high risk associated with tumor removal surgery, especially as the location of the tumors may be near your brain, spinal cord or sitting on nerves near vital organs. Side effects may include bleeding, infection and nerve damage. Your surgeons and care team are highly trained to assess possible risks and prevent complications.
Side effects of chemotherapy and radiation therapy may include:
Talk to your provider about what side effects to look out for before you begin treatment.
You can’t prevent NF2-related schwannomatosis (neurofibromatosis type 2). If you’re looking to expand your family and want to learn more about your risk of having a child with a genetic condition, talk to a healthcare provider about genetic counseling.
NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. Your healthcare provider will examine how your symptoms affect you to give you a more accurate prognosis.
Your provider may recommend physical exams, imaging tests, and hearing and vision tests at least once a year to monitor tumor growth and treatment throughout your life, if necessary.
Visit a healthcare provider if you notice symptoms of NF2 like:
Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.
NF2-related schwannomatosis (neurofibromatosis type 2) affects each person differently. Your symptoms can have a severe effect on how you go about your daily routine, or have little effect that only needs monitoring annually. Your care team will find treatment options to help you manage your symptoms. They’ll weigh each type of treatment to make sure it’s safe and that it offers the best outcome for you. If you plan on expanding your family and have a known biological history of neurofibromatosis, talk to your provider about genetic counseling.
Last reviewed by a Cleveland Clinic medical professional on 11/16/2023.
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