What is Neurofibromatosis?

Did you know that Neurofibromatosis (NF) is one of the most common genetic disorders in the world? It is more common than Cystic Fibrosis, Tay Sach's, and Muscular Dystrophy... combined!!! This means that NF is the most common neurological disorder caused by one single gene. Do YOU know what Neurofibromatosis is?

Neurofibromatosis is a genetic disorder that causes tumors to grow uncontrollably on the nerves in the body, both internally and externally. Often these tumors (called neurofibromas) appear on the surface of ones skin, but they can also presented on the brain, spinal cord and heart. NF has been categorized into three distinct different types:

1. Neurofibromatosis Type 1: occurs 1 in 3,000 individuals
2. Neurofibromatosis Type 2: occurs 1 in 25, 000 individuals
3. Schwannomatosis: occurs 1 in 40, 000 individuals

Neurofibromatosis is an extremely variable disorder, meaning no two cases are exactly alike. It is an autosomal dominant disorder, meaning if you have NF you have a 50% chance of passing on the illness to your children. In order to be diagnosed with NF-1 (the type of NF that I have) you must present with two of the following diagnostic criteria:

a) Having 6 or more "cafe-au-lait" spots on the skin
b) Freckling in the axillary (armpit) or inguinal (groin) regions
c) Having a family history of NF
d) Tumors on the iris of the eye (called Lisch Nodules)
e) Presence of 2 or more neurofibromas on the skin OR 1 or more plexiform neurofibroma
f) Skeletal abnormalities such as scoliosis and tibial dysplasia (bowing of the legs)
g) Presence of an optic glioma (a tumor the grown on the optic nerve)

Other complications that can arise from having NF are learning disabilities, hypetension, hormonal imbalances, having seizures, speech impairment and early or late onset puberty.


If you are looking for more information on NF, please visit these sites:


  • http://mbnf.ca/
  • http://www.ctf.org/
  • http://kidshealth.org/parent/general/aches/nf.html 
  • http://www.bcnf.bc.ca/