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Health Information For Parents
Neurofibromatosis type 1 (NF1) is a genetic condition. It causes benign (not cancerous) tumors to grow in and under the skin, often with bone, hormone, and other problems.
Most kids with NF1 have mild symptoms that don’t limit what they can do.
There are two main types of neurofibromatosis:
They’re very different conditions. NF1 can never become NF2 or the other way around, and a person can have only one type of neurofibromatosis.
A third type of NF, schwannomatosis, is very rare. Most people with this type don’t have symptoms until they’re adults.
Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones.
By their first birthday, most children with NF1 have several skin spots, called café-au-lait (“coffee with milk”) spots because of their color. Café-au-lait spots are:
Children with NF1 may be slower to walk, talk, and reach other milestones than most kids. They also may have:
Neurofibromas (ner-oh-fye-BROH-muz) can:
The symptoms of NF1 are mild in some children, but severe in others.
NF1 and NF2 are part of a group of rare conditions called RASopathies (raz-OP-uh-thees). These happen when there’s a problem in the way cells communicate in one of the body’s pathways.
Children with neurofibromatosis type 1 have cells that don’t make neurofibromin as they should. Neurofibromin is a protein that acts like a brake to stop the RAS pathway and keep cells from growing out of control.
Without working neurofibromin, the cells:
This happens because of a change (mutation) in a gene called NF1.
There are three types of NF1, depending on when the DNA change happened:
Sometimes, NF1 runs in families. A parent who has it has a 50% chance of passing it to a child. Other times, the change is “spontaneous.” This means that a child has the condition but the parents do not. This is called a new mutation.
NF1 may be diagnosed before or at birth using genetic (DNA) tests. A doctor usually suggests genetic testing for NF1 if:
Most children with NF1 are diagnosed only after several café-au-lait spots appear. A doctor usually will:
The doctor will do an exam and may work with a team of specialists who diagnose and treat children with NF1, including:
When doctors suspect a child has NF1, they usually look for brain, bone, and other problems using:
Because children with NF1 get more signs and symptoms as they grow, the diagnosis may not be made right away. Almost all kids with the condition are diagnosed by the time they’re 8 years old.
There’s no cure for NF1, but treatment can make it easier for a child to live with its symptoms.
Children with NF1 are cared for by a team that includes specialists in:
Most children with NF1 have mild symptoms, and live full, typical lives. A child with NF1 needs regular checkups so doctors can look for:
Research continues into better treatments for people with NF. Ask if your child might be a candidate for a clinical trial that’s testing a new treatment option.
RASopathies are a group of genetic conditions caused by problems in the RAS pathway, which is one way cells in the body communicate.
Legius syndrome is a rare genetic condition. Kids who have it have multiple cafÃ©-au-lait spots on their skin and might be slower to walk, talk, and reach other milestones than most kids.
Costello syndrome is a very rare disorder that affects multiple organ systems. It causes causes problems that affect a child’s heart, muscles, bones, skin, brain, and spinal cord.
Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It affects the heart, facial features, and skin.
Neurocutaneous syndromes are genetic disorders that lead to tumor growth in various parts of the body. Learn how to maximize the quality of life for children with these diseases.
Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.
Advances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.
Hearing problems can be overcome if they’re caught early, so it’s important to get your child’s hearing screened early and checked regularly.
It’s important for kids to have their eyes examined regularly, as many vision problems and eye diseases can be detected and treated early.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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