Neurofibromatosis 2 (NF2) is a disorder in which tumors form on the nerves of the brain and spine (the central nervous system). It is passed down (inherited) in families.
Although it has a similar name to neurofibromatosis type 1, it is a different and separate condition.
NF2 is caused by a mutation in the gene NF2. NF2 can be passed down through families in an autosomal dominant pattern. This means that if one parent has NF2, any child of that parent has a 50% chance of inheriting the condition. Some cases of NF2 occur when the gene mutates on its own. Once someone carries the genetic change,their children have a 50% chance of inheriting it.
The main risk factor is having a family history of the condition.
Symptoms of NF2 include:
- Balance problems
- Cataracts at a young age
- Changes in vision
- Coffee-colored marks on the skin (café-au-lait), less common
- Hearing loss
- Ringing and noises in the ears
- Weakness of the face
Exams and Tests
Signs of NF2 include:
- Brain and spinal tumors
- Hearing-related (acoustic) tumors
- Skin tumors
- Physical examination
- Medical history
- CT scan
- Genetic testing
Acoustic tumors can be observed, or treated with surgery or radiation.
People with this disorder may benefit from genetic counseling.
People with NF2 should be regularly evaluated with these tests:
- MRI of the brain and spinal cord
- Hearing and speech evaluation
- Eye exam
NF2; Bilateral acoustic neurofibromatosis; Bilateral vestibular schwannomas; Central neurofibromatosis
Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.
Slattery WH. Neurofibromatosis 2. In: Brackmann DE, Shelton C, Arriaga MA, eds. Otologic Surgery. 4th ed. Philadelphia, PA: Elsevier; 2016:chap 57.
Varma R, Williams SD. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 16.
Review Date 10/3/2019
Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.