Neurofibromatosis is a genetic disorder of the nervous system. Tumors form on your nerve tissues. Mainly, neurofibromatosis disorders affect the growth and development of nerve cell tissue.


Mutations that lead to neurofibromatosis include:

Neurofibromatosis 1 (NF1)

The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells’ growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth.

Neurofibromatosis 2 (NF2)

The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth.


Mutations of the two known genes linked to schwannomatosis, SMARCB1 and LZTR1, which both suppress tumors, are associated with this type of neurofibromatosis.


Neurofibromatosis symptoms

  • Loss of hearing

  • Weakness of the muscles of the face

  • Dizziness

  • Poor balance

  • Uncoordinated walking

  • Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age

  • Headaches

Schwannomatosis symptoms

People with schwannomatosis may have the following symptoms:

  • Pain from the enlarging tumors

  • Numbness and tingling of the fingers or toes

  • Weakness in the fingers and toes

  • Chronic pain

  • Loss of muscle


  • Physical examination

  • Medical history

  • Family history

  • X-rays

  • Computerized tomography (CT) scans

  • Magnetic resonance imaging (MRI)

  • Biopsy of neurofibromas

  • Eye tests

  • Tests for particular symptoms, such as hearing or balance tests

  • Genetic testing


  • Neurological problems like trouble learning or thinking

  • Anxiety or distress with changes to your appearance, like large numbers of cafe au lait spots

  • Skeletal problems, like bowing of the legs, scoliosis, fractures that don’t heal, or low bone density that increases your risk of osteoporosis

  • Vision problems due to a tumor pressing against the optic nerve

  • Problems during times of hormonal changes, such as puberty or pregnancy

  • Cardiovascular problems like high blood pressure

  • Breathing problems

  • Higher risk of some cancers, such as breast cancer, leukemia, colorectal cancer, brain tumors, and some soft tissue cancers

  • Benign adrenal gland tumor that could cause high blood pressure


  • Surgery to remove problem growths or tumors

  • Treatment that includes chemotherapy or radiation if a tumor has turned malignant, or cancerous

  • Surgery for bone problems, like scoliosis

  • Therapy (including physical therapy, counseling, or support groups)

  • Cataract removal surgery

  • Aggressive treatment of pain linked to the condition

  • Stereotactic radiosurgery

  • Auditory brainstem and cochlear implants

diseases treatments health prevention nervous-system neurofibromatosis disorders

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