What is NF?
Neurofibromatosis (NF) is a set of complex genetic disorders that affects almost every organ system, causing tumors to grow on nerves in the brain and throughout the body. While half of all affected people inherit the disorder, new cases can arise spontaneously through mutations (changes) in the NF genes.
Diagnosed most often in children and young adults, NF occurs worldwide and in all races, ethnic groups and both sexes. NF can appear in any family. Treatments for NF are presently aimed at controlling symptoms, but surgery can help to alleviate painful and disfiguring tumors.
Neurofibromatosis Type 1 (NF1) is among the world’s most common genetic disorders, occurring in about one of every 3,000 births. This makes it more widespread than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay Sachs combined.
In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including:
- Skin, bone and eye abnormalities
- Nerve tumors
- Optic nerve and other brain tumors
- Learning and attention deficits
- Heart defects
Neurofibromatosis Type 2 (NF2) is significantly less common than NF1, occurring in approximately 1 out of every 40,000 births. Individuals affected by NF2 can develop:
Schwannomatosis is a rare form of Neurofibromatosis, affecting approximately 1 in 40,000 people. Only recently recognized, this genetic condition does not have a clear pattern of inheritance. Common features of Schwannomatosis include the development of schwannomas on the cranial, spinal and peripheral nerves, which often result in issues with chronic pain and neurological dysfunction.