NF, the group name for Neurofibromatosis Type 1 (NF1), NF2-related-Schwannomatosis (NF2) and Schwannomatosis (SWN), occurs all over the world and affects men and women equally. The two main conditions are NF1 and NF2 and two rarer variants: Legius Syndrome and Schwannomatosis.

What is NF2-related-Schwannomatosis (NF2)?

NF2 is a rare genetic disorder that is caused by another genetic “spelling mistake” in a single gene on chromosome 22. The misprinted gene will be present at birth, but signs of the condition do not usually appear until the teenage years, twenties or later.

NF2 can be passed on from a parent OR it can start in a family with no previous history of the disorder. It occurs in 1 in 35,000 of the population.

What challenges are associated with NF2?

A person who has NF2 has a 50% chance of passing on the condition to each of his/her children. NF2 is a variable and unpredictable condition affecting different people in different ways. The disorder is usually diagnosed by MRI scans.

In NF2, people develop nerve tumours to grow where they shouldn’t, typically in the brain and spine. These tumours are mainly benign, but they can cause hearing loss, deafness, and mobility problems due to the pressure built up on key nerves.

NF2 is very different to NF1 in that virtually all people with NF2 will need operations or other treatments for NF2-related brain or spinal cord tumours at some time in their life.

At any one time, there are around 1,000 people with NF2.