What is the definition of Neurofibromatosis Type 2?

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.

What are the alternative names for Neurofibromatosis Type 2?

NF2; Bilateral acoustic neurofibromatosis; Bilateral vestibular schwannomas; Central neurofibromatosis

What are the causes for Neurofibromatosis Type 2?

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.

What are the symptoms for Neurofibromatosis Type 2?

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
  • Headaches
  • Hearing loss
  • Ringing and noises in the ears
  • Weakness of the face

What are the current treatments for Neurofibromatosis Type 2?

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

What are the support groups for Neurofibromatosis Type 2?

The following resources can provide more information on NF2:

  • Children's Tumor Foundation -- www.ctf.org
  • Neurofibromatosis Network -- www.nfnetwork.org


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.

  • Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • Published —
Cystic schwannoma of the distal forearm. Case presentation.
  • Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • Published —
Bevacizumab as a surgery-sparing agent for spinal ependymoma in patients with neurofibromatosis type II: Systematic review and case.
Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 80
  • Start Date: June 20, 2020
Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2)
Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 19
  • Start Date: February 18, 2020
Open-label, Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas