Healthdirect Free Australian health advice you can count on.

Medical problem? Call 1800 022 222. If you need urgent medical help, call triple zero immediately

healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do.

Neurofibromatosis is characterised by the growth of neurofibromas, a type of tumour that is usually benign.

Neurofibromatosis is characterised by the growth of neurofibromas, a type of tumour that is usually benign.
beginning of content

Neurofibromatosis

2-minute read

Neurofibromatosis is a relatively common genetic condition. The signs and symptoms differ from person to person, depending on what type they have. Neurofibromatosis is not yet curable, but it is a manageable and many people with the condition lead normal lives.

What is neurofibromatosis?

Neurofibromatosis is characterised by the growth of neurofibromas. These are a type of tumour that is usually benign, or non-cancerous, although occasionally they can be cancerous. These neurofibromas can form wherever there are nerve cells in the body.

Half of all people affected by neurofibromatosis have inherited it from a parent who has the condition, while others will be the first person in their family to have it.

Types of neurofibromatosis

There are three types of neurofibromatosis:

  • neurofibromatosis type 1 (NF1) — the most common form caused by a change in a gene on chromosome 17
  • neurofibromatosis type 2 (NF2) — a very rare form caused by a change in a gene on chromosome 22
  • schwannomatosis — similar to NF2, but not associated with inner ear tumours and hearing loss

Signs and symptoms of neurofibromatosis

In NF1, benign tumours commonly grow on the skin. A common feature of NF1 is café au lait spots, which are harmless coffee-coloured skin patches. Most people have one or two of these spots, but people with NF1 always have six or more. In NF1, tumours can also appear on the optic nerve and on the iris in the eye. These tumours might or might not affect your vision.

In NF2, the benign tumours usually develop in the ears, but they can also be found within the spinal cord and brain. Symptoms can include hearing loss and problems with swallowing, speech, balance and eye movements.

Diagnosing neurofibromatosis

Neurofibromatosis is usually diagnosed in childhood. If a doctor sees several signs indicating someone has neurofibromatosis, they will refer them to a specialist for further testing. Prenatal genetic testing is possible if neurofibromatosis is known to run in the family.

Living with neurofibromatosis

Neurofibromatosis can’t be cured, but any symptoms that arise can be treated and/or managed. Regular medical attention may be required throughout childhood and into adulthood, particularly if tumours become cancerous, though this is rare.

Where to go for help?

The Children's Tumour Foundation provides care and support people with NF and their families.

More information

Visit our genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.

Last reviewed: August 2018

Need more information?

These trusted information partners have more on this topic.

Top results

Neurofibromatosis

Neurofibromatosis Category: Brain, Spinal Cord and Nerve Health Topic: Nerve Problems Send by email View as PDF Send by post The term neurofibromatosis (NF) is used in a general way to describe two completely separate genetic conditions, caused by different faulty genes

Read more on Queensland Health website

Types of family cancer - Cancer Council Australia

Find out about the different types of family cancer such as hereditary non-polyposis colorectal, breast and ovarian cancer.

Read more on Cancer Council Australia website

Rare Cancers Australia - Directory - Brain Tumour Overview

Rare Cancers Australia is a charity whose purpose is to improve the lives and health outcomes of Australians living with a rare or less common cancer.

Read more on Rare Cancers Australia website

Healthdirect 24hr 7 days a week hotline

24 hour health advice you can count on

1800 022 222

Government Accredited with over 140 information partners

We are a government-funded service, providing quality, approved health information and advice

Australian Government, health department logo ACT Government logo New South Wales government, health department logo Northen Territory Government logo Government of South Australia, health department logo Tasmanian government logo Government of Western Australia, health department logo