In this section
Neurofibromatosis (NF) is a group of genetic disorders: NF1, NF2 and schwannomatosis (shwon-oh-ma-toe-sis).
NF1 (also known as von Recklinghausen disease) is the most common type, affecting an estimated one in 3000 people in Australia.
NF1 is a variable disorder, which means that it can affect children in many different ways. It usually causes freckles or spots, most often on the skin or eyes, and benign (not cancer) swelling or lumps around the nerves.
Many children with NF1 have no or very few medical problems, but about four in 10 children will have some complications. Treatment for NF1 depends on the particular medical problems your child develops.
NF1 is something you are born with and it is not contagious. Some of the signs of NF1 do not appear until later in life, often around puberty.
NF1 can affect many different organs in the body in very different ways, but some features of the condition are more common. The major features of NF1 include:
Other common features of NF1 include:
Rarely, children with NF1 may have other complications, such as:
If you are concerned that your child may have NF1, see your GP. You may be referred to a paediatrician or paediatric neurologist (a doctor specialising in childhood disorders of the nerves and brain).
A diagnosis can be made by the doctor following a thorough history and examination. Other tests may be ordered to determine what parts of the body are affected. A blood test can be ordered but is not necessary to make a diagnosis.
There is currently no cure for NF1. Most people with NF1 have no or few medical problems and live normal lives, with no need for treatment. However, because every person with NF1 is at risk of complications from this disorder, it is important that they are regularly reviewed by a
doctor who is familiar with the condition. Young children should be seen every six to 12 months, and older children every year. This monitoring will pick up any complications early so that treatment can be started immediately. Different specialists will treat your child, depending on the medical problem that may
It is very important that children with NF1 have their eyes checked regularly, as they are at risk of developing optic gliomas. Optic gliomas are small tumours on the nerves behind the eyes. The tumours are benign, but can affect vision by putting pressure on the nerves. Optic gliomas
can be treated if detected early.
About one in two children with NF1 inherit it from a parent with NF1. The other cases are due to a new, spontaneous change that happened for an unknown reason (sporadic change) in the gene for NF. When a child has sporadic NF1, neither of their parents is affected. However, there is a
one-in-two chance that the child will pass on the affected gene to their future children.
Because NF is variable, it is possible that the children of a mildly affected parent could be more seriously affected. On the other hand, the children of a severely affected parent who inherit the condition may be less severely affected than the parent who has the disorder.
Is a cure for NF1 possible?
Although there is no cure at the moment, the gene that
causes NF1 has been identified. A lot of research is being carried out in this
area and there is a realistic hope for more effective treatments for the
complications of NF1 within the next five to 10 years.
What is NF2?
Neurofibromatosis 2 (NF2) involves benign tumours that
affect the nerve that carries sound and balance information to the brain from
the inner ear. People with NF2 may experience partial or complete hearing loss.
NF2 is much less common than NF1, and only affects about one in 25,000 people.
If my child wants to have children, will they be affected
There is a chance your child will also have
children affected by neurofibromatosis. It is important anyone with NF1 talk
with their doctor or a genetic counsellor before conceiving.
Developed by The Royal Children's Hospital General Medicine and Neurosciences departments. We acknowledge the input of RCH consumers and carers.
Reviewed June 2018.
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