Facts and Statistics

Over the years we have been asked many questions. These are questions and answers a lot of people would find beneficial so we wanted to share them with you.

What is neurofibromatosis?

Neurofibromatosis (NF) is a group of three genetic conditions which gives rise to the potential for benign tumours to grow on nerves anywhere in the body. NF also affects the development of other systems and tissues including; the cardiovascular system, bones, skin, brain, eyes, respiratory system, gastrointestinal tract and hormonal system.

What are the types of NF?

The three types of NF are distinct: NF1, NF2 and Schwannomatosis. If you have one type it cannot turn into another form of NF. They are each caused by a different gene, which are located on different chromosomes.

How common is NF?

NF1 is one of the most common genetic inherited conditions, affecting up to 1 in 2,500 individuals. It is at least as common as Cystic Fibrosis, Muscular Dystrophy and Huntington's disease.

NF2 and Schwannomatosis are rarer, affecting 1 in 30,000 people.

Is NF known by any other names?

NF1 is also known as von Recklinghausen disease or peripheral NF.

NF2 has previously been known as Bilateral Acoustic Neurofibromatosis and Central Neurofibromatosis.

Schwannomatosis has only recently been characterised and those affected may have been given a diagnosis or were being monitored for NF2.

How is NF inherited?

NF1, NF2 and Schwannomatosis (when inherited) are autosomal dominant genetic conditions.

Autosomal means that the genes causing these conditions are found on chromosomes that do not determine or relate to sex.

Dominant means that inheriting a single copy of a gene that is carrying a mutation or ‘spelling mistake’ (i.e. from one parent) is enough for a person to be affected by the condition.

See Genetics for more information.

Is NF always inherited?

No. Approximately half (50%) of people affected by NF1 will be the first person in their family to have NF1. This is also the case with people affected by NF2. Schwannomatosis, however, is more commonly caused by a spontaneous change to the gene involved as 85% of those affected are the first in their family to have the condition.

I have NF, what is the chance that my child will have NF?

Each time a person who has NF has a child, that child will have a 50% (1 in 2) chance of inheriting the condition. The type the child inherits will be the same type the parent has, however the severity and the features and symptoms that child will have cannot be predicted.

Who does NF affect?

NF affects both females and males equally. The conditions are seen worldwide with no racial, geographic or ethnic preferences. Any family can be affected by NF.

Do all people with NF have the same features/symptoms?

No. NF is variable. Even within the same family there is no way to predict how someone will be affected. Some will be mildly affected with very few or no health problems while others can have serious life-threatening problems or problems that cause difficulty day-to-day and limits what they are able to do.

Can NF1 turn into NF2?

No. NF1 and NF2 are distinct conditions. NF1 cannot turn into NF2 or vice versa. It is important to have a correct diagnosis from a doctor who knows about the condition as the health management plan for each of these conditions is different.

What are the most common features of NF?

The features most commonly seen in NF1 are café au lait spots, benign non-symptomatic tumours on the iris (Lisch nodules), freckling, and neurofibromas on or under the skin (usually pea sized lumps).

The most common features of NF2 are benign tumours which grow on the 8th cranial nerve in both ears, which often results in hearing loss and issues with balance.

For Schwannomatosis the main feature is chronic pain, which can be greater than expected from the underlying neurological problems the person affected faces. Head to Diagnosis and NF1 for more details.

What complications can arise?

Aside from the common features above, people affected with NF can present with some less common features and complications. In NF1 there may be issues with bones, optic pathway gliomas (tumours at the back of the eye), plexiform neurofibromas (large neurofibromas which, if on the skin, appear like swellings across a larger area), and many others. See Diagnosis and NF1 for more details.

NF2 also gives rise to an increased risk for other nervous system tumours and can cause a loss of vision through retinal abnormalities, cataracts and orbital tumours.

What about the Elephant Man?

The “Elephant Man” is not the same as NF. Though for some time it was thought to be, the “Elephant Man” condition is a much rarer disorder called Proteus Syndrome, which is in essence an overgrowth syndrome.

Does it go away?

No. NF is a progressive condition and there is currently no cure.

How can I help?

CTF raises funds for research, awareness and support services to provide information and care to families and individuals affected by NF. With little government funding and a low level of awareness and recognition for NF, CTF relies on the generosity of its supporters to make these services and initiatives happen.

There are many ways you can help provide vital support to the NF community. You can start with a donation to sustain CTF’s support network and services, contribute to an improved long-term outlook for NF by leaving a bequest, volunteer your skills, participate in an upcoming fundraising event, or organise your own community fundraiser.

You can also help by providing support to the families and individuals affected by NF in your local NF community by becoming a Support Contact for your area. Organise coffee catch-ups, family picnics, or simply lend an ear to someone looking for support as they go through their NF journey. Contact us with your details and interest in becoming a local NF support contact.