Neurofibromatosis (NF) Defined

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. Although many affected persons inherit the disorder, new cases can arise spontaneously through mutation (change) in an individual’s genes.

Treatments for both NF1 and NF2 are presently aimed at controlling systems. Surgery can help to alleviate painful and disfiguring tumors.

Neurofibromatosis Defined

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.

Diagnosed most often in children and young adults, NF1 occurs worldwide and in all races, ethnic groups and both genders. NF1 can appear in any family.

Located in the Midwest, the Washington University Neurofibromatosis (NF) Center is one of the premier NF clinic and research centers in the United States and treats patients from outside the region and outside of the United States.

Patients outside of the area may refer to visit the St. Louis Children’s Hospital Online Visitors’ Guide or contact their Guest Services at (314) 454-2615 for assistance with lodging and pertinent information on transportation in St. Louis.