Neurofibromatosis - Sonya A.

Neurofibrotomosis. It is a disorder that prevents the cell from growing. Neurofibromatosis has a gene mutation on chromosome number 17. The individual inherits this disorder from a parent. It is an autosomal dominant pattern and it also only needs one copy of the defective gene for the child to have the disorder.

The signs and symptoms of the disorder include:

• most patients will have very visible large brown spots and freckles everywhere on the body.
• The have noncancerous tumors called neurofibromas that may progress into a malignant tumor.
• Others patients may have high blood pressure, bone defects, scoliosis (the curving of the spine), learning disabilities and benign growth on the iris of the eye and benign tumors on the optic nerve. The optic nerve connects the eye to the brain.

When the doctors diagnose patients who have Neurofibromatosis, they look for physical signs such as the tumors or the spots that are visible on the body. The doctors also take into account, your family history. Another method they can use is sequencing the patient's gene to find any mutations. They will not recommend genetic testing because it is very easy to confirm the disorder with physical signs and also there are no extra benefits for extra treatment at this current time.

At this point in time, there is no cure or current treatment. Although, you can surgically remove some of the tumors in your body.

In the population, Neurofibromatosis occurs 1 in every 3,000 to 4,000 people around the world. It also occurs in both genders and in all ethnic groups and ethnicities.

The life expectancy of this disorder will vary because it depends on the severity and there is no definite and concrete age that a person will live up to with the disorder.