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Neurofibromatosis

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by

Bridgette Maloney

on 30 April 2010

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Transcript of Neurofibromatosis

Neurofibromatosis Description of the Condition: NF is a genetic disorder where patients develop soft tumors under the skin and throughout the nervous system. There are two types of NF: NF-1(90% of all cases) and NF-2(10% of all cases) NF-1 symptoms:
Patches of different colored skin
freckles in the armpit or groin area
Lisch Nodules in the iris of the eyes
soft rubbery tumors under the skin
Skeletal Deformities
Tumors along optic nerve NF-2 symptoms:
Not the same symptoms as NF-1
Hearing loss
Tumors that might spread to surrounding nerves which could lead to weakness of face muscles, headaches, dizziness, poor balance, and uncoordination. Chromosomes affected:
NF-1 NF-1 affects the 17th chromosome NF-2 affects the 22nd chromosome
NF is not sex-linked! It doesn't favor sex, race, ect. Lisch Nodules in the iris Frequency: One in every 4,000
babies is born with NF Lifespan: Normal depending on condition of tumors Treaments: Exams for NF:
Eye exams
Genetic tests
MRIs
There are no know treatments for NF
However, some symptoms can be treated; for example, skin tumors, brian tumors, twisted spine, and bowed legs. Nf is an autosomal dominant genetic disorder The enviornment doesn't impact NF, but certain conditions could bring out some symptoms I think that living with Neurofibromatosis would be very different. People would probably stare at you, deoending on how bad you have NF. Also your lifespan wouldn't changed dramaticly, so you would have a pretty normal life other than the NF. Reggie Bibbs: Elephant man: 17th chromosome
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