Neurofibromatosis (NF) is an unpredictable, progressive disorder that causes tumors to form in the nervous system, specifically in and around nerve cells. These tumors can show up anywhere in the body, including in the brain, spinal cord, adrenal gland, eyes and in muscle tissue.
While neurofibromatosis tumors are usually benign, they can pose health risks. Some tumors can lead to disfigurement. Growths on or near the spinal cord and surrounding nerves can cause to paralysis. In about 10% of cases, these tumors become malignant cancers. For patients whose tumors pose serious health risks, early detection is key.
Neurofibromatosis itself is actually a collection of three genetic disorders. Each disorder can be inherited from a parent or be a new, random mutation that exists in every cell’s DNA. In both cases the condition can be passed down to the patient’s children.
Approximately 100,000 Americans have an NF disorder. The most diagnosed type, NF1, affects around 1 out of every 3,500 births. Most NF1 patients have mild to moderate symptoms, but it is a progressive disorder that can lead to disfigurement, skeletal abnormalities and learning disabilities.
NF2 is much rarer than NF1 and is characterized by tumors on the vestibular nerve.
NF2 brings an increased risk of other types of nervous system tumors and may cause severe vision problems.
Schwannomatosis is also very rare. It is defined by the presence of multiple schwannomas (tumors that grow around nerves without involving the skin or other organs) everywhere in the body except on the vestibular nerve.
Neurofibromatosis risk factors
Neurofibromatosis is caused by one of three genetic mutations that are either inherited from a parent or that seemingly randomly in an individual. People with one of these mutations will develop the disorder. There are no steps that can prevent the disease.
Children with one parent with neurofibromatosis have a 50% chance of inheriting the gene and developing the disease. Individuals with the disease should get genetic counseling for themselves and for their children.
Neurofibromatosis is a genetic condition that runs in families. If you have neurofibromatosis, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more.