What is NF?
Neurofibromatosis (NF) is a set of complex genetic disorders that affects almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body.
While half of all affected persons inherit the disorder, new cases can arise spontaneously through mutation (change) in the NF genes. Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help to alleviate painful and disfiguring tumors.
In most cases, symptoms of NF1 are mild allowing patients to live normal and productive lives. However, it can also be debilitating and in some cases life-threatening. NF can lead to problems within various systems, organs and functions of the body including:
- DEVELOPMENT: learning disabilities, poor school performance, hyperactivity/attention deficit
- BRAIN: brain tumors, vision loss, seizures, paralysis, headaches
- NERVES: nerve tumors, weakness, pain
- BONE: scoliosis and bone deformities
- HEART: valve defects, abnormalities of the arteries
- SKIN: pigmentary abnormalities, particularly café-au-lait spots
Of the two types of NF that have been identified, 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. NF2 is less common, and affected individuals can develop brain, nerve, and spinal tumors.
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. The Washington University NF Center Reserachers are achieving significant breakthroughs in the diagnosis and treatment of nervous system tumors and establishing the Washington University NF Center as an international beacon for NF research.
For more information on neurofibromatosis, please read the following pages written specifically for patients and their families: