Is NF1 a birth defect?

Is NF1 a birth defect?

Although NF1 is a congenital (present at birth) condition, the full extent of the disease is usually revealed only as a child grows and develops. More than 95% of children with NF1 develop multiple café au lait spots.

Can people with NF1 get pregnant?

Most women with NF1 have healthy pregnancies. However, the number of neurofibromas may increase because of hormone changes.

Does neurofibromatosis cause infertility?

While fertility does not seem to be impaired in neurofibromatosis, these patients experience a higher-than-expected rate of first-trimester spontaneous abortions (20.7%), stillbirths (8.7%) and intrauterine growth retardation (13.0%).

Can a parent have neurofibromatosis but not their child?

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. How Is Neurofibromatosis Type 1 Diagnosed?

Are there different types of neurofibromatosis ( NF )?

Neurofibromatosis, also known as NF, is a genetic disorder that affects 1 in every 3,000 people. There are three types of NF: NF1, NF2, and schwannomatosis .

How old does a child have to be to be diagnosed with NF1?

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. How Is Neurofibromatosis Type 1 Treated?

Which is the best drug for neurofibromatosis in children?

The drug selumetinib (Koselugo®) has been approved by the U.S. Food and Drug Administration (FDA) to treat children older than two years old who have symptomatic but inoperable plexiform neurofibromas.

Can you have a child with neurofibromatosis?

A: Yes, because anyone can have a child with NF1. If you have a mutation in the NF1 gene, there’s a 50 percent chance that another child will have the mutation. If you don’t have the mutation, there’s about a 1 percent chance that another would have NF1, too.

Are there any treatments for neurofibromatosis other than NF1?

Treatments for other conditions associated with NF1 are aimed at controlling or relieving symptoms. Headache and seizures are treated with medications.

What can you do for a child with NF1?

Children with NF1 may also have learning or behavioral challenges. Due to these conditions, medical treatment may include medication, surgery, radiation, or chemotherapy, among other interventions. NF is the most common cancer predisposition syndrome in children.

When do you find out if you have neurofibromatosis?

Neurofibromatosis (NF1) is a life-long condition usually diagnosed early in life, often within the first year. NF1 is diagnosed based on specific skin, ocular, and other physical findings, and genetic blood testing in selected cases.