A Few Simple Facts About Neurofibromatosis (NF)

• NF is one of the most common neurological conditions caused by a single gene mutation (a "spelling mistake" in the genetic code)
• NF occurs in all ethnic backgrounds, in both sexes, throughout the world
• 50% of new diagnoses occur without any other member of the family having NF. Doctors call this a spontaneous gene mutation.
• This means that potentially any baby is at risk of developing NF.
• A parent who has NF has a 50% risk (or 1 in 2 chance) of passing NF on to their child
• NF is a variable condition

NF1 and NF2 are separate and distinct conditions. It is important to have a correct diagnosis from a doctor who knows about NF.

Mostly NF1 is easy to diagnose. If there is doubt, a genetics department can usually help to clear up any uncertainty.

Facts about NF1

• NF1 is a common genetic condition
• The "spelling mistake" in the gene is found on chromosome 17
• It occurs in 1 in 3000 of the population
• The early signs of NF1 are café au lait spots (flat brown birthmarks) on the skin, freckles in unusual places, and neurofibromas (lumps and bumps) on the skin.
• One third of people will have one or more medical complication during their lifetime.
• Mild learning difficulties are common in NF1

Facts about NF2

• NF2 is rare genetic condition
• The "spelling mistake" in the gene is found on chromosome 22
• It occurs in 1 in 35000 of the population
• NF2 is usually diagnosed by MRI scans
• In NF2 people develop nervous system tumours (lumps) typically in the brain and spine
• NF2 can cause hearing loss, deafness, and mobility problems

NF1 cannot turn into NF2.

NF2 cannot turn into NF1.