Genetic Disease Neurofibromatosis

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Neurofibromatosis

Full description
Neurofibromatosis occurs in 1 in 3,000 to 4,000 individuals in the United States. Although many affected people inherit the disorder, between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation from unknown causes.  Once this mutation has taken place, the mutant gene can be passed on to succeeding generations.



Symptoms
There are many symptoms for Neurofibromatosis. These include: six or more light brown spots on the skin, often called “cafe-au-lait” spots, measuring more than 5 millimeters in diameter in children, or more than 15 millimeters across in adolescents and adults and freckling in the area of the armpit or the groin. Two or more growths on the iris of the eye, known as Lisch nodules or iris hamartomas. A tumor on the optic nerve, known as optic glioma. Abnormal development of the spine, scoliosis, the temple, sphenoid, bone of the skull, or the tibia, one of the long bones of the shin. Many children with Neurofibromatosis have larger than normal head circumference and are shorter than average. Hydrocephalus, the abnormal buildup of fluid in the brain, is a possible complication of the disorder.  Headache and epilepsy are also more likely in individuals with Neurofibromatosis than in people without it. Cardiovascular complications are associated with Neurofibromatosis, including congenital heart defects, high blood pressure, and constricted, blocked, or damaged blood vessels.  Children with Neurofibromatosis may have poor linguistic and visual-spatial skills, and perform less well on academic achievement tests, including those that measure reading, spelling, and math skills.  Learning disabilities, such as attention deficit hyperactivity disorder (ADHD), are common in children with Neurofibromatosis. How is it inherited?

Many affected people inherit the disorder from a parent but between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation...
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