Children's Hospital Colorado

Neurofibromatosis in Children

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Genetics and Inherited Metabolic Diseases
Do you have questions about your child’s condition?

What is neurofibromatosis type 1 (NF1)?

Neurofibromatosis type 1 (NF1) is a genetic condition that tends to run in families. It results from a gene mutation (change).

Children born with neurofibromatosis develop benign (noncancerous) tumors on nerve endings throughout their bodies. Symptoms generally appear in early childhood and can range from mild to serious. The severity of NF1 varies from person to person. Even individuals in the same family can experience NF differently, for reasons that doctors don't yet understand.

There is a related and more rare condition called neurofibromatosis type 2 (NF2). It is also genetic but comes from changes to a different gene.

What causes neurofibromatosis?

Children born with neurofibromatosis type 1 have a mutation in the NF1 gene. When functioning properly, the NF1 gene prevents an overgrowth of cells in certain parts of the body. A change in that gene allows cells to grow too rapidly. As a result, tumors form.

All people have two copies of the NF1 gene — one from each parent. A child needs only one copy of the mutated gene to develop NF1.

Who gets neurofibromatosis?

NF1 is a relatively common condition that affects about 1 in 3,000 children. The condition affects males, females and people from all ethnic backgrounds equally.

About half of children born with neurofibromatosis inherit the gene change from one of their parents who also has NF1. If one parent has the changed gene that causes NF1, their child has a 50% chance of inheriting the gene mutation. In some cases, the parent may not know they carry the gene mutation because their symptoms are very mild and undiagnosed.

In the other 50% of children with NF1, the gene change occurs randomly before birth, rather than being inherited.

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