How many cases of Legius syndrome are there?

Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified ...

How common is Legius syndrome?

Frequency. The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.

How common is Schwannomatosis?

Schwannomatosis is a rare form of neurofibromatosis (NF) that causes multiple nerve sheath tumors called schwannomas. Schwannomatosis affects about one in 40,000 people. It is diagnosed most often in people over age 30.

Is neurofibromatosis considered a rare disease?

NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.

How common is NF1 mutation?

NF1 is among the most common genetic conditions. It is estimated that as many as 1 in 3,000 people have an NF1 mutation. About 50% of people affected by NF1 do not have any family history of the condition. They have a de novo (new) mutation in the NF1 gene.

“Inherited Condition with Many Birthmarks” | Legius Syndrome | Symptoms, Diagnosis, Treatment

How serious is NF1?

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.

Is NF1 life threatening?

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including: Skin, bone and eye abnormalities.

What is the life expectancy of someone with NF1?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.

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.

Does NF1 qualify for disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability. But, the symptoms that accompany the condition can be reviewed for benefits.

Is schwannoma serious?

Schwannoma tumors are often benign, which means they are not cancer. But, in rare cases, they can become cancer.

Are multiple schwannomas common?

Most schwannomas are isolated, meaning that an individual develops only a single tumor. It is rarer to have multiple schwannomas, as occurs in schwannomatosis.

How do you get a schwannoma?

The cause of schwannomas is not known in most cases. Most often they occur spontaneously. Genetic disorders such as Carney complex, neurofibromatosis 2 (NF2) and schwannomatosis can cause schwannomas.

Is cafe au lait spots normal?

Yes. Café-au-lait (CAL) spots are most often present on a newborn's skin but it is common for CAL spots to develop on a person's skin later in life. It is normal for a person to have a few CAL spots but more than six spots may be a sign of an underlying condition.

Can you have café au lait spots without neurofibromatosis?

It is not unusual for a healthy child to have a few café-au-lait spots, and it is not recommended to provide an evaluation for NF1 if the spots are fewer than six in number. These spots also should be clear and distinct – finding very faint or small skin spots does not count towards the six spots needed for diagnosis.

At what age is neurofibromatosis usually diagnosed?

Neurofibromatosis 1. Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

Can you donate blood if you have NF1?

MRI exams are not part of the usual recommendations unless there is a specific concern or problem. People with NF1 can donate their blood and organs to other people who are in need of blood or organ transplants.

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.

Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.

Can NF1 tumors be removed?

If cancerous tumors develop with neurofibromatosis—for example, malignant plexiform neurofibromas, which can develop in the arms, legs, or trunk—they can also be surgically removed. For cancerous tumors, surgery may be combined with other treatments for cancer.

Can NF1 cause leukemia?

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene. Patients with NF1 have a higher risk to develop juvenile myelomonocytic leukemia (JMML) with a possible progression toward acute myeloid leukemia (AML).

Does NF1 affect puberty?

Delayed or Early Puberty: Most people with NF1 will start puberty at the expected age range, but some may have precocious (early) or delayed puberty. Small Stature: Affects about 30% of people with NF1 and may be treated with growth hormone.

Can NF1 turn into NF2?

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.

Can NF1 cause vomiting?

Also, vomiting and lethargy could be a sign of obstructive hydrocephalus, a condition of increased brain fluid pressure that is rare, but more common in people with NF1 and usually occurs in childhood or young adulthood. Also regarding physical growth, some degree of short stature is common among children with NF1.

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.