Alternative Names
BANF; Bilateral Acoustic Neurofibromatosis; Central Neurofibromatosis; Familial Acoustic Neuromas; Neurofibromatosis 2; Neurofibromatosis Type II; NF2NF type 2; Schwannoma, Acoustic, Bilateral
Symptoms & Characteristics
Neurofibromatosis type 2 (also known as NF type 2 or bilateral acoustic neurofibromatosis) is a genetic condition characterized by the growth of noncancerous tumors on the nerves of the brain and the spinal cord (the central nervous system).
The most common tumors develop along the auditory nerve, which carries information from the inner ear to the brain. These growths are called vestibular schwannomas or acoustic neuromas and can lead to hearing loss, ringing in the ears (called tinnitus), and problems with balance.
Tumors that occur on nerves in other areas of the brain or spinal cord are also common. Their signs and symptoms vary according to growth location. More common complications of tumor growth may include; changes in vision or sensation, numbness or weakness in the arms or legs, and fluid buildup in the brain.
Some affected people also develop clouding of the eye surface (called cataracts) in childhood.
Treatment
There is no cure for NF type 2. However, early diagnosis and routine surveillance can help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
A recent study suggests that about 1 in 25,000 people worldwide are suspected to be affected with NF type 2.
Genetics & Inheritance
NF type 2 is caused by mutations in a gene called neurofibromin 2 (also known as NF2), which is located on chromosome 22 at the location q12.2.
We all have two copies of the NF2 gene - one from each parent. In NF type 2, having a mutation in a single gene copy is sufficient enough to cause the disease. This is called autosomal dominant inheritance.
- An affected person has a 50% chance with each pregnancy to have an affected child.
- In about 50% of cases of NF type 2, an affected person inherits the condition from an affected parent. Other people have no family history, and their condition is a result of a sporadic, new ("de novo") mutation.
There are other genetic conditions that have characteristics that overlap with NF type 2. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for NF type 2 is available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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