NF 1

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VON RECKLINGHAUSEN'S

NEUROFIBROMATOSIS
A PowerPoint presentation by Morgan Laurio
on NF 1

DEFINITION

Neurofibromatosis is a genetic
disorder that disturbs cell growth
in your nervous system, causing
tumors to form on nerve tissue

CAUSE

Autosomal dominant disease


Genetic Disorder
Not a sex-linked gene
Not non-disjunction
It is inherited from a parent or occur
spontaneously at conception
The gene produces a protein called neurofibromin
The gene is located on chromosome 17

FACTS ABOUT NF

NF 1 occurs in every 1 in 3,000 births


There is no sex or racial predilection
NF 1 occurs from birth; symptoms show up
from the birth

SYMPTOMS

Caf au lait spots


Freckling in the armpits and/or groin area
Soft bumps on or under skin
Tiny bumps on the iris of your eye
Bone deformities
Learning disabilities
Larger than average head size
Short stature

TESTING AND SCREENING

Physical examination of medical history


Eye exam
Ear exam
Imaging tests
Genetic tests

TREATMENT

There is no cure for NF


Medication is given for pain
Surgeries are used to remove part
or all of the tumors. The surgeries
might relieve symptoms.

NOT FUN, INTERESTING FACTS

Less than 10% of people with NF 1 develop


cancerous tumors
People with NF 1 have an increased risk of
cardiovascular problems like high blood
pressure

http://www.mayoclinic.org/diseases-conditions/neurofibro
matosis/basics/treatment/con-20027728?utm_source=Google&
utm_medium=abstract&utm_content=Neurofibromatosis&utm_ca
mpaign=Knowledge-panel
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491339/

SOURCES

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