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Neurofibromatosis

Neurofibromatosis. By, Mara Cardona and Donielle Cotto. Names for Disease. Neurofibromatosis NF. Type of Disorder. Chromosomal Autosomal Dominant 0.04% (1 in every 2,500 children). Chromosome. Neurofibromatosis 1 affects the 17 th chromosome

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Neurofibromatosis

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  1. Neurofibromatosis By, Mara Cardona and DonielleCotto

  2. Names for Disease • Neurofibromatosis • NF

  3. Type of Disorder • Chromosomal • Autosomal Dominant • 0.04% (1 in every 2,500 children)

  4. Chromosome • Neurofibromatosis 1 affects the 17th chromosome • Neurofibromatosis 2 affects the 22nd chromosome

  5. Symptoms • Starts showing signs in the early childhood • Flat tan colored spots on the skin • Freckling in the armpit area • Soft bumps under the skin • Tiny bumps on the iris of your eye • Bone Deformity’s • Larger than Normal head size • Short Stature

  6. Diagnostic Testing • If you, your partner, or child has neurofibromatosis type 1, or your doctor suspects NF1, your doctor or genetic counselor may talk to you about genetic testing. • Genetic testing is also called molecular or DNA testing • Genetic testing can’t tell you the severity of NF

  7. Prognosis • 1 in every 2,500 children is affected by NF1 • 1 in every 40,000 people are diagnosed with NF2 • Normal life expectancy • Lives with cancerous tumors and high blood pressure

  8. Treatment • There is no treatment of Neurofibromatosis • Tumors that cause pain or loss of function can be removed • If cancerous tumors appear, surgery will have to be done

  9. Current Research • Right now most the research of NF is being focused on the severity of the disease because not a lot is known about the disease other than it is a hereditary disease

  10. Genetic Counseling • 50/50 chance of passing on the condition • There are 4 possible genetic combinations for every time an egg and sperm combine, this explains the 50/50 chance of your child having the condition

  11. Pedigree Normal Normal Male Female

  12. Shannon Lee Gentile • Shannon was diagnosed with NF2 at 15. She had 2 open brain surgeries at the age of 16 on both sides of her brain removing tumors. As a result from these surgeries Shannon lost her hearing, balance, and both sides of her face were paralyzed. Even with all of this she was able to graduate high school and learn sign language. She went on to college and got 2 degrees one Associates degree in Applied Science and the degree that came later was a Bachelors degree in English. She died in 2004 at the age of 33.

  13. Credits • http://www.nfcalifornia.org/Stories.aspx (Story) • www.ninds.nih.govkidshealth.org • www.mayoclinic.org • http://health.nytimes.com/health/guides/disease/neurofibromatosis-1/overview.html • www.ncbi.nlm.nih.gov • http://books.google.com/books?id=M4Usm36YfsMC&pg=PA43&lpg=PA43&dq=what+genetic+counseling+neurofibromatosis&source=bl&ots=kf8IS5eh0R&sig=OQmQqVBOING8yjnBW1u9Ey6FDAk&hl=en&sa=X&ei=B7AJUa_UK8qayQH82oDADw&ved=0CFgQ6AEwBg#v=onepage&q&f=false • http://www.genome.gov/14514225 • http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/ • http://www.orthobullets.com/pediatrics/4054/neurofibromatosis • http://health.doctissimo.com/infants-health/infant-chromosome-gene-disorders/neurofibromatosis.html

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