Neurofibromatosis type 1
Neurofibromatosis is the general name for a number of genetic conditions that cause tumours to grow along your nerves.
Tumours are swellings formed by a growth of cells. In neurofibromatosis, the tumours are usually non-cancerous (benign).
Neurofibromatosis type 1 (NF1) is the most common type, affecting about one in 3,000 births.
Neurofibromatosis type 2 (NF2), which is much less common,has different symptoms and is caused by changes in different genes, so is covered separately. Read about Neurofibromatosis type 2 .
NF1 is a condition you're born with, although some symptoms develop gradually over many years. The severity of the condition can vary considerably from person to person.
In most cases of NF1 the skin is affected, causing symptoms such as:
Certainhealth problems are often associated with NF1, such as learning difficulties. Less commonly, NF1 is associated witha type of cancer known as malignant peripheral nerve sheath tumours.
As a result, the growth of nerve tissue isn't properly controlled.
In half of all cases of NF1, the genetic mutation is passed from a parent to their child. In other cases, the genetic mutation appears to develop spontaneously.
Although genetic tests can be carried out during pregnancy to check if your child will have NF1, most cases are diagnosed after birth from the characteristic symptoms.
Treatment involves regular monitoring and treating any problems as they occur.
This can involve surgery to remove tumours and improve bone abnormalities, medication to control secondary conditions such as high blood pressure, and therapy for behavioural problems.
In many cases, careful monitoring and treatment can help people with NF1 live a full life. However, there's a risk of developing serious problems such ascertain types of cancer, which can reduce life expectancy in some people by up to 15 years.
This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
Neurofibromatosis is the name for a number of genetic conditions that cause tumours to grow along your nerves.
The severity of neurofibromatosis type 1 (NF1) can vary considerably. The condition is often mild and causes no serious health problems but some people experience severe symptoms.
Neurofibromatosis type 1 (NF1) is caused by a genetic mutation in a gene called the NF1 gene.
Neurofibromatosis type 1 (NF1) is usually diagnosed by checking for the characteristic symptoms of the condition.
There is currently no cure for neurofibromatosis type 1 (NF1), so management involves regular monitoring and treatment for any problems as and when they arise.