Can you be a carrier of NF1 and not have it?

NF does not skip generations which means you cannot be a carrier if you do not have it, even if one or more parents have NF. NF1 and NF2

NF2

Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves.

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Neurofibromatosis type II - Wikipedia

are therefore said to have “complete penetrance”.

Can you have NF1 and not know it?

What Are the Signs & Symptoms of Neurofibromatosis Type 1? 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.

Is NF1 always genetic?

In half of all cases of NF1, the faulty gene is passed from a parent to their child. Only one parent needs to have the faulty gene for their child to be at risk of developing the condition. If either the mother or father has the faulty gene, there's a 1 in 2 chance that each child they have will develop NF1.

What are the chances of passing down NF1?

Once a person has NF1, however, they can pass on the faulty gene to their children. In each pregnancy, an affected parent has a one in two (50 per cent) chance of passing the NF1 faulty gene on to their child, causing the child to be affected.

Can NF1 skip a generation?

Only one parent need be affected to cause a child to have NF1 (autosomal dominant inheritance). NF1 does not skip generations. Sporadic or random pathogenic variants in the gene responsible for NF1 account for the remaining 50% of cases and occur when a child has NF1 but neither parent does.

Ask Kate! Can I be a "carrier" of neurofibromatosis?

Can you have NF1 without café-au-lait spots?

It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1). People diagnosed with NF1 usually have more than six café-au-lait spots on their bodies along with additional symptoms related to their diagnosis.

Does everyone with NF1 get neurofibromas?

Most people with NF1 will develop regular neurofibromas, but only a third of all people with NF1 will have a plexiform neurofibroma. You may want to ask your doctor if any of your tumors are a plexiform, so you know the difference.

Can someone be a carrier for neurofibromatosis?

A person can get NF1 in one of two ways. Half of cases happen completely by chance. The rest of the time, NF1 is inherited or passed down from parent to child. In some cases, the signs or symptoms of NF1 are so mild that a parent may not find out they have NF1 until a child is diagnosed.

Can NF1 be mild?

The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it's unlikely someone will develop all of them.

Does NF1 get worse with age?

Typically, adults with NF1 will develop more neurofibromas over time. They may grow for a period of time and then stop growing. In addition, they may change in shape or color as they grow. Sometimes, they can also be associated with itching or slight discomfort when bumped.

How do I verify NF1?

How do I know if I have NF1?

Signs and symptoms include: Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots suggests NF1 .

How can you test and confirm NF1?

A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don't have an identifiable mutation. Testing can now also be performed for SPRED1.

What can be mistaken for neurofibromatosis?

Legius syndrome also is called a neurofibromatosis 1-like syndrome because its symptoms are similar to NF1. Individuals with Legius syndrome have skin problems including brown birthmarks, called cafe-au-lait spots, and freckling, as well as mild learning problems and a larger head.

Are you born with NF1?

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.

Can café-au-lait spots be normal?

Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.

How do you get rid of NF1 bumps?

There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy.

When do freckles appear in NF1?

The freckles usually start to develop around the age of three and become more obvious as the child grows. The unusual areas of freckling have, until very recently, been considered to be characteristic of just NF1. However they are also present in a related condition called Legius syndrome (discussed below).

Is there a cure coming soon for neurofibromatosis?

Neurofibromatosis can be treated and managed, but there is no cure. MSK recently launched a neurofibromatosis center to improve the treatment of this disease. Neurofibromatosis is a genetic disorder that often leads to tumors throughout the nervous system, including the brain, spinal cord, and nerves.

Can neurofibromatosis be prevented?

Can neurofibromatosis be prevented or avoided? You cannot avoid NF. You can have genetic testing to see if you carry the gene.

When do nf1 tumors appear?

They can be present at birth or may not become noticeable for many years. Although some cutaneous neurofibromas arise in childhood, most start appearing during or after the teenage years. Freckling usually appears by 3 to 5 years of age. Freckles are similar in appearance to café-au-lait spots but are smaller in size.

What follow up tests are needed for NF1?

Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities.

Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

What percentage of offspring will have neurofibromatosis?

Inheritance of NF

Both NF1 and NF2 follow autosomal dominant inheritance. This means that individuals with either of these conditions have a 50% chance of passing the condition on to their offspring.

Do neurofibromas look like pimples?

A neurofibroma may look like a pimple at first and may grow gradually in size. A person with NF1 may continue to gradually develop new neurofibromas over the years throughout adulthood.