NeurofibromatosisBy,

Mara Cardona and Donielle Cotto

Names

0Neurofibromatosis

0NF

Type of Disorder

0Chromosomal0Autosomal Dominant00.04% (1 in every 2,500 children)

Chromosome

0Neurofibromatosis 1 affects the 17th chromosome0Neurofibromatosis 2 affects the 22nd chromosome

Symptoms

0Starts showing signs in the early childhood0 Flat tan colored spots on the skin0 Freckling in the armpit area0 Soft bumps under the skin 0 Tiny bumps on the iris of your eye0 Bone Deformity’s 0 Larger than Normal head size 0 Short Stature

Diagnostic Testing

0 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.

0Genetic testing is also called molecular or DNA testing0Genetic testing can’t tell you the severity of NF

Prognosis

01 in every 2,500 children is affected by NF101 in every 40,000 people are diagnosed with NF20Normal life expectancy0Lives with cancerous tumors and high blood pressure

Treatment

0There is no treatment of Neurofibromatosis

0Tumors that cause pain or loss of function can be removed

0 If cancerous tumors appear, surgery will have to be done

Current Research

0Right 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

Genetic Counseling

050/50 chance of passing on the condition

0There 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

Pedigree

Normal NormalMale Female

Shannon Lee Gentile

0Shannon 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.

Credits

0 http://www.nfcalifornia.org/Stories.aspx (Story)0 www.ninds.nih.gov kidshealth.org0 www.mayoclinic.org0 http://health.nytimes.com/health/guides/disease/neurofibromatosi

s-1/overview.html0 www.ncbi.nlm.nih.gov0 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

0 http://www.genome.gov/145142250 http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/0 http://www.orthobullets.com/pediatrics/4054/neurofibromatosis0 http://

health.doctissimo.com/infants-health/infant-chromosome-gene-disorders/neurofibromatosis.html