Fact: 1 in 4000 are afflicted

What is Neurofibromatosis?

Neurofibromatosis is a genetic disorder that disturbs cell growth in the nervous system. This causes tumors to form on nerve tissue. These tumors may develop anywhere in the nervous system, including in the brain, spinal cord and nerves. Neurofibromatosis is typically diagnosed in childhood or early adulthood.

The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations

The tumors caused by Neurofibromatosis are usually noncancerous (benign), however, in some cases these tumors become cancerous (malignant) tumors. Most people with neurofibromatosis often experience only mild symptoms. Effects of neurofibromatosis can range from hearing loss, learning impairment, and heart and blood vessel (cardiovascular) complications to severe disability due to nerve compression by tumors, loss of vision and severe pain.

Facts And Statistics

NF has been classified into three distinct types; 
NF1, NF2 and Schwannomatosis. They are caused by different genes, located on different chromosomes.  

·NF1 is the most common neurological disorder caused by a single gene; occuring in one in every 3,000 children born.  ·NF2 is a rarer type, occurring in 1:25,000 people worldwide.  
·While today there is no consensus, studies indicate that schwannomatosis occurs in 1:40,000 people.  
·The Neurofibromatoses are genetically-determined disorders which affect more than 2 million people worldwide; this makes NF more prevalent than cystic fibrosis, Duchenne muscular dystrophy, and Huntington's Disease combined.  
·All forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new or "spontaneous mutation" (change) in the sperm or egg cell.  
·Each child of an affected parent has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family.  
·NF is worldwide in distribution, affects both sexes equally and has no particular racial, geographic or ethnic distribution. Therefore, NF can appear in any family.  
·Although most cases of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain, and spinal tumors; loss of limbs; malignancies; and learning disabilities.  
·NF1 also has a connection to developmental problems, especially learning disabilities, which are five times more common in the NF1 population than in the general population.  
·The distinguishing feature of NF2 is tumors that grow on the eighth cranial nerve in both ears, commonly causing deafness and severe balance problems.  
·NF2 brings on increased risk of other types of nervous system tumors as well.  
·NF2 can also cause severe vision problems, including cataracts, retinal abnormalities and orbital tumors.  
·Accordingly, NF research may benefit an additional 100 million Americans (i.e. 65 million with cancer and 35 million with learning disabilities).  
·NF is not the "Elephant Man's Disease," although it was at one time believed to be. Scientists now believe that John Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.  

(Facts & Statistics Taken from Children's Tumor Foundation)


Three distinct types of neurofibromatosis exist, each with different signs and symptoms.

Neurofibromatosis 1 (NF1)Neurofibromatosis 1 (NF1) usually appears in childhood. Signs and symptoms include:

  • Flat, light brown spots on the skin. These harmless spots, also called cafe au lait (ka-FAY oh LAY) spots, are common in many people. If you have more than six of them, it's a strong indication of NF1. In NF1, cafe au lait spots are usually present at birth or appear during the first years of life and then stabilize. They aren't serious but can sometimes be a cosmetic concern.
  • Freckling in the armpits or groin area. Freckling usually appears by age 4 or 5.
  • Soft bumps on or under the skin (neurofibromas).Neurofibromas are benign tumors that can be located anywhere in the body. Many people develop tumors in the skin or under the skin, but neurofibromas can also grow inside of the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).
  • Tiny bumps on the iris of your eye (Lisch nodules). Lisch nodules — harmless lesions in your eye — can't easily be seen just by looking at them, and they don't affect your vision. However, your doctor can detect these lesions using a special instrument.
  • Bone deformities. Abnormalities in the way bones grow and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.
  • Learning disabilities. Impaired thinking skills (cognition) are common in children with NF1, but are usually mild. Children may have difficulty with language and visual-spatial skills. Children with NF1 often may have a specific learning disability, such as attention-deficit/hyperactivity disorder (ADHD).
  • Larger than average head size. Children with NF1 tend to have a larger than average head size and higher brain volume, but it's unknown whether this is related to cognitive impairment.
  • Short stature. Children with NF1 often have a short stature and are below average in height.

Neurofibromatosis 2 (NF2)Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of vestibular Schwannomas (also known as acoustic neuromas) in both ears.

These benign tumors grow on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). Resulting signs and symptoms generally appear in the late teen and early adult years and may include:

  • Gradual hearing loss
  • Ringing in the ears
  • Poor balance

In some cases, NF2 can lead to growth of schwannomas in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Associated signs and symptoms may include:

  • Facial drop
  • Numbness and weakness in the arms or legs
  • Pain
  • Balance difficulties

In addition, NF2 may result in vision problems due to abnormal growth on the retina (mostly in children) or due to the development of cataracts.

SchwannomatosisSchwannomatosis is a rare form of neurofibromatosis only recently recognized. It rarely affects people before their 20s or 30s. Schwannomatosis causes painful tumors called schwannomas to develop on cranial, spinal and peripheral nerves, but not on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve).

Because tumors don't grow on this nerve, schwannomatosis doesn't cause hearing loss, making it different from NF2. As with NF2, though, schwannomatosis doesn't cause cognitive impairment. Schwannomatosis mainly causes chronic pain, which can occur anywhere in your body.

(Symptoms information taken from The Mayo Clinic Website)

Want to learn more?

The following are organizations and/or websites dedicated to providing information and education surrounding Neurofibromatosis. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.