NF-1 Fact Sheet

Neurofibromatosis type 1 (NF-1)

Neurofibromatosis type 1 (NF-1), formerly called von Recklinghausen’s Disease or peripheral neurofibromatosis, is thought to occur in 1 of 2,500 births affecting approximately 100,000 individuals in the US alone. The gene for NF-1 is on chromosome 17. NF-1 and can generally be characterized by:

  • Multiple cafe-au-lait colored spots on skin
  • Tumors of varying sizes on or under the skin
  • Lisch nodules on the iris of the eyes
  • Freckling in the underarm or groin area
  • Possible learning disabilities
  • Possible bone deformities, including scoliosis
  • Possible optic glioma
  • Possible family history of NF (about half of all cases)
  • Symptoms sometimes present at birth