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Neurofibromatosis 2

Neurofibromatosis 2

Central nervous system
Central nervous system

Definition:

Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).

See also: Neurofibromatosis 1 (NF1)

Alternative Names:
NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF
Causes, incidence, and risk factors:

NF2 is passed down through families in an autosomal dominant fashion. This means that if one parent has NF2, any child of that parent has a 50-50 chance of having it.

The main risk factor is having a family history of the condition.

Symptoms:

Symptoms of NF2 include:

  • Balance problems
  • Cataracts at a young age
  • Changes in vision
  • Coffee-colored marks on the skin
  • Facial weakness
  • Headaches
  • Hearing loss
  • Ringing and noises in the ears
Signs and tests:

Signs include:

  • Brain and spinal tumors
  • Hearing-related (acoustic) tumors
  • Skin tumors

Tests include:

  • Genetic testing
  • Medical history
  • MRI
  • Physical examination

Review Date: 10/25/2007
Reviewed By: Chad Haldeman-Englert, M.D., Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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