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 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.
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. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.
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 10/26/2017
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.