Learn About Neurofibromatosis Type 2

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 may be passed down (inherited) in families.

Although it has a similar name to neurofibromatosis type 1, it is a different and separate condition.

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What are the alternative names for Neurofibromatosis Type 2?

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

What are the causes of 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. Once someone carries the genetic change, their children have a 50% chance of inheriting it.

Some cases of NF2 occur when the gene mutates on its own. This is called sporadic and is not inherited.

What are the symptoms of 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
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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
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What are the support groups for Neurofibromatosis Type 2?

More information and support for people with NF2 and their families can be found at:

  • Children's Tumor Foundation -- www.ctf.org
  • Neurofibromatosis Network -- www.nfnetwork.org
Central nervous system and peripheral nervous system
What are the latest Neurofibromatosis Type 2 Clinical Trials?
Vestibular Precision: Physiology & Pathophysiology

Summary: This project will investigate the role of noise in the vestibular system, and in particular its effects on the variability (precision) of vestibular-mediated behaviors. The investigators will study vestibular precision in normal subjects and patients with peripheral vestibular damage, and will investigate its potential plasticity. The goals are to develop a better understanding of the role noise p...

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A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas

Summary: This is a parallel-group, two-staged, Phase 2/3, randomized, multi-center study to investigate the efficacy and safety of REC-2282 in patients with progressive NF2 mutated meningiomas.

What are the Latest Advances for Neurofibromatosis Type 2?
Multiple craniospinal tumors in a pediatric patient with neurofibromatosis type 2: a case report.
Cochlear Implantation in Neurofibromatosis Type 2: Experience From the UK Neurofibromatosis Type 2 Service.
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Cochlear implant in vestibular schwannomas: long-term outcomes and critical analysis of indications.
Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate 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.

What are the references for this article ?

Goldblum JR, Folpe AL, Weiss SW. Benign tumors of peripheral nerves. In: Goldblum JR, Folpe AL, Weiss SW, eds. Enzinger and Weiss's Soft Tissue Tumors. 7th ed. Philadelphia, PA: Elsevier; 2020:chap 26.

Safier RA, Cleves-Bayon C, Gaesser J.  Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.

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.