Neurofibromatosis

KEY POINTS

  • Neurofibromatosis (also called NF) causes tumors that can be in many parts of the body, including the brain, spinal cord, nerves and skin.

  • If you have NF, you can pass it to your baby through genes. You may want to have some genetic tests during pregnancy to see if your baby has NF.

  • If your baby has NF, she may not have signs or symptoms until later in life, depending on the kind of NF she has.

  • If you think your child may have NF, talk to her health care provider.

What is neurofibromatosis? 

Neurofibromatosis (also called NF) is a condition that causes tumors to grow along the nerves in the body or under the skin. NF tumors usually aren’t cancer, but they can cause problems by pressing on organs and tissues. NF can lead to problems in many parts of the body, including the brain, spinal cord, nerves and skin. 

The effects of NF vary a lot. Some children who have it aren’t affected by it at all; others can have major health problems because of it. NF can happen in boys and girls of any race or ethnic background.

What are the different kinds of neurofibromatosis?

There are three kinds of NF: 

1NF type 1 (also called NF1 or von Recklinghausen disease). This is the most common kind of NF. It affects about 1 in 2,500 to 3,000 births each year in the United States. Signs of NF1 may be present at birth and almost always by the time a child is 10. Most people with NF1 have only mild signs and symptoms that need little or no treatment. But some can be more severe. Signs and symptoms of NF1 include:

  • Light brown spots on the skin called café-au-lait spots. These are the most common signs of NF, and they often appear at birth or in the first years of life. They’re harmless, but if your child has more than six, she probably has NF1. Freckles in the armpits or groin area also are signs of NF1. These usually appear when your baby is 3 to 5 years old. 
  • Soft, pea-sized bumps on or under the skin called neurofibromas. They usually appear between ages 10 and 15 and usually are not cancer. 
  • Tiny tan clumps of color (also called Lisch nodules) in the iris (the colored part) of the eyes or a tumor on the eye’s optic nerve. People with NF1 may also have vision problems. 
  • Curves in bones, like in the spine (called scoliosis) or in the leg below the knee. People with NF1 also may be shorter than most people or have a large head.
  • Seizures. Up to 40 percent of children (2 in 5) with NF1 have seizures.
  • Speech and learning problems
  • Being hyperactive. This means your child is very active and has trouble sitting still and paying attention.

If your baby has NF1, she has a higher risk of having:

  • Cancer, like brain tumors and leukemia
  • Fluid build-up in the brain called hydrocephalus
  • Heart problems, like high blood pressure or damaged blood vessels

2. NF type 2 (also called NF2, bilateral acoustic NF, central NF or vestibular NF). NF2 affects about 1 in 25,000 births each year in the United States. Many signs and symptoms of NF2 begin during the late teenage years and include:

  • Tumors called schwannomas along the nerve from the ear to the brain. These tumors can cause problems with balance (like dizziness) and hearing (like ringing in the ears) and hearing loss
  • Tumors that grow along other nerves of the body, like in the brain and spine
  • Vision problems, including cataracts. A cataract is a film or cloud that covers the lens of the eye.
  • Headaches
  • Weakness or numbness throughout the body

3. Schwannomatosis. This kind of NF is rare and affects only 15 percent of people with NF1 or NF2. Signs and symptoms usually begin after age 20 and can include:

  • Pain in any part of the body. This is the biggest problem caused by schwannomatosis. It can be serious enough to prevent people from doing their usual activities. People with this condition may need surgery or to see a health care provider who specializes in treating and helping people deal with pain.
  • Schwannomas like in NF2, but on different nerves in the body that don’t affect hearing or balance.
  • Numbness or tingling in the fingers and toes
  • Feeling weak or dizzy
  • Weak muscles

What causes NF? 

NF is caused by gene changes (also called mutations). These are changes to instructions that are stored in a gene. The gene changes can be passed from parent to child or they can happen on their own. 

If you have NF1 or NF2, your baby has a 50-percent chance (1 in 2) of inheriting it from you. Half of children with NF1 and NF2 inherit the gene change from a parent. In the other half, the gene change happens on its own in the womb before birth. So even if you and your partner don’t have NF, it’s possible for you to have a baby with NF. 

We don’t know for sure how the gene change happens for Schwannomatosis. Experts think about 15 percent of people with this condition inherit it from parents and the rest have a gene change that happens on its own. 

How do you know if your baby has NF?

If you or your partner has NF or NF is in your family health history, talk to a genetic counselor to learn more about the chances of your baby having NF. A genetic counselor is trained to help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby’s health. Your family history is a record of any health conditions, like NF, and treatments that you, your partner and everyone in your families have had. Birth defects are health conditions that are present at birth. They change the shape or function of one or more parts of the body, and they can cause problems in overall health, in how the body develops or in how the body works.

If you or your partner has NF or has a family history of NF, you may want to have certain prenatal tests during pregnancy to see if your baby has NF. Tests called amniocentesis and chorionic villus sampling can sometimes tell if your baby has NF1 or NF2. 

After your baby’s born, his health care provider can find out if he has NF by looking at signs and symptoms and reviewing your family history. Your baby’s provider may do some tests for NF, including:

  • A physical exam to look for café-au-lait spots 
  • X-rays and other tests to look for tumors or bone problems
  • Genetic tests that looks for changes in genes that can cause NF  
  • Hearing tests for NF2

How is NF treated? 

Treatment depends on the kind of NF your child has. Medical treatment can include:

  • Surgery to remove tumors that are causing pain or other problems
  • Radiation or chemotherapy for tumors that become cancerous or cause other problems
  • Surgery or a back brace for serious scoliosis
  • Hearing aids
  • Auditory brainstem implant for teens and adults who have NF2 with hearing loss who have had parts of their auditory nerve removed. Many children with NF2 have to have parts of their auditory nerve removed because of tumors. A surgeon places the implant behind the ear near the brain that helps people with NF2 hear certain sounds and speech.

If your child has speech, learning or behavior problems caused by NF, she can get early intervention services. These services can help children from birth through 3 years old learn important skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Visit the Early Childhood Technical Assistance Center to find your state’s contact information for early intervention services.

Last Reviewed: April, 2016


What is neurofibromatosis? 

Neurofibromatosis (also called NF) is a condition that causes tumors to grow along the nerves in the body or under the skin. NF tumors usually aren’t cancer, but they can cause problems by pressing on organs and tissues. NF can lead to problems in many parts of the body, including the brain, spinal cord, nerves and skin. 

The effects of NF vary a lot. Some children who have it aren’t affected by it at all; others can have major health problems because of it. NF can happen in boys and girls of any race or ethnic background.

What are the different kinds of neurofibromatosis?

There are three kinds of NF: 

1NF type 1 (also called NF1 or von Recklinghausen disease). This is the most common kind of NF. It affects about 1 in 2,500 to 3,000 births each year in the United States. Signs of NF1 may be present at birth and almost always by the time a child is 10. Most people with NF1 have only mild signs and symptoms that need little or no treatment. But some can be more severe. Signs and symptoms of NF1 include:

  • Light brown spots on the skin called café-au-lait spots. These are the most common signs of NF, and they often appear at birth or in the first years of life. They’re harmless, but if your child has more than six, she probably has NF1. Freckles in the armpits or groin area also are signs of NF1. These usually appear when your baby is 3 to 5 years old. 
  • Soft, pea-sized bumps on or under the skin called neurofibromas. They usually appear between ages 10 and 15 and usually are not cancer. 
  • Tiny tan clumps of color (also called Lisch nodules) in the iris (the colored part) of the eyes or a tumor on the eye’s optic nerve. People with NF1 may also have vision problems. 
  • Curves in bones, like in the spine (called scoliosis) or in the leg below the knee. People with NF1 also may be shorter than most people or have a large head.
  • Seizures. Up to 40 percent of children (2 in 5) with NF1 have seizures.
  • Speech and learning problems
  • Being hyperactive. This means your child is very active and has trouble sitting still and paying attention.

If your baby has NF1, she has a higher risk of having:

  • Cancer, like brain tumors and leukemia
  • Fluid build-up in the brain called hydrocephalus
  • Heart problems, like high blood pressure or damaged blood vessels

2. NF type 2 (also called NF2, bilateral acoustic NF, central NF or vestibular NF). NF2 affects about 1 in 25,000 births each year in the United States. Many signs and symptoms of NF2 begin during the late teenage years and include:

  • Tumors called schwannomas along the nerve from the ear to the brain. These tumors can cause problems with balance (like dizziness) and hearing (like ringing in the ears) and hearing loss
  • Tumors that grow along other nerves of the body, like in the brain and spine
  • Vision problems, including cataracts. A cataract is a film or cloud that covers the lens of the eye.
  • Headaches
  • Weakness or numbness throughout the body

3. Schwannomatosis. This kind of NF is rare and affects only 15 percent of people with NF1 or NF2. Signs and symptoms usually begin after age 20 and can include:

  • Pain in any part of the body. This is the biggest problem caused by schwannomatosis. It can be serious enough to prevent people from doing their usual activities. People with this condition may need surgery or to see a health care provider who specializes in treating and helping people deal with pain.
  • Schwannomas like in NF2, but on different nerves in the body that don’t affect hearing or balance.
  • Numbness or tingling in the fingers and toes
  • Feeling weak or dizzy
  • Weak muscles

What causes NF? 

NF is caused by gene changes (also called mutations). These are changes to instructions that are stored in a gene. The gene changes can be passed from parent to child or they can happen on their own. 

If you have NF1 or NF2, your baby has a 50-percent chance (1 in 2) of inheriting it from you. Half of children with NF1 and NF2 inherit the gene change from a parent. In the other half, the gene change happens on its own in the womb before birth. So even if you and your partner don’t have NF, it’s possible for you to have a baby with NF. 

We don’t know for sure how the gene change happens for Schwannomatosis. Experts think about 15 percent of people with this condition inherit it from parents and the rest have a gene change that happens on its own. 

How do you know if your baby has NF?

If you or your partner has NF or NF is in your family health history, talk to a genetic counselor to learn more about the chances of your baby having NF. A genetic counselor is trained to help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby’s health. Your family history is a record of any health conditions, like NF, and treatments that you, your partner and everyone in your families have had. Birth defects are health conditions that are present at birth. They change the shape or function of one or more parts of the body, and they can cause problems in overall health, in how the body develops or in how the body works.

If you or your partner has NF or has a family history of NF, you may want to have certain prenatal tests during pregnancy to see if your baby has NF. Tests called amniocentesis and chorionic villus sampling can sometimes tell if your baby has NF1 or NF2. 

After your baby’s born, his health care provider can find out if he has NF by looking at signs and symptoms and reviewing your family history. Your baby’s provider may do some tests for NF, including:

  • A physical exam to look for café-au-lait spots 
  • X-rays and other tests to look for tumors or bone problems
  • Genetic tests that looks for changes in genes that can cause NF  
  • Hearing tests for NF2

How is NF treated? 

Treatment depends on the kind of NF your child has. Medical treatment can include:

  • Surgery to remove tumors that are causing pain or other problems
  • Radiation or chemotherapy for tumors that become cancerous or cause other problems
  • Surgery or a back brace for serious scoliosis
  • Hearing aids
  • Auditory brainstem implant for teens and adults who have NF2 with hearing loss who have had parts of their auditory nerve removed. Many children with NF2 have to have parts of their auditory nerve removed because of tumors. A surgeon places the implant behind the ear near the brain that helps people with NF2 hear certain sounds and speech.

If your child has speech, learning or behavior problems caused by NF, she can get early intervention services. These services can help children from birth through 3 years old learn important skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Visit the Early Childhood Technical Assistance Center to find your state’s contact information for early intervention services.

Last Reviewed: April, 2016