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 any painful and disfiguring tumors.
Neurofibromatosis Type 1
Neurofibromatosis Type 1 (NF1) is among the world’s most common genetic disorders, occurring in about one of every 3,000 births. 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.
Neurofibromatosis Type 2
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 cataracts and many different types of brain and nerve tumors.
Schwannomatosis is a rare form of Neurofibromatosis with multiple subtypes. Some forms affect approximately 1 in 20,000 people, whereas other types affect 1 in 70,000 people. Only recently recognized, this genetic condition does not have a clear inheritance pattern. Common features of Schwannomatosis include the development of schwannomas on the cranial, spinal and peripheral nerves.