1. By: Alaina Zsampar MARFAN SYNDROME

2.  Disorder that affects the body’s connective tissues  1896  By French Doctor Antoine Marfan  Observed a five year old girl  1991  Cause  The severity of symptoms depends on the type of mutation  Seen in famous figures  About 1 in 5 to 10,000 WHAT IS THIS DISEASE?

3.  Mutation in Chromosome 15 on FBN1 gene  Point mutation  Changes amino acid in Fibrilin-1 protein  Causes abnormalities and impairs it’s function  The FBN1 gene  produces protein fibrilin-1 CAUSE

4.  Autosomal Dominant  25%  new mutations  Other 75%  inherited at birth  Commonly inherited connective tissue disorders INHERITANCE

5.  Long arms, legs and fingers  Tall and thin body type  Curved spine  Chest sinks in or sticks out  Flexible joints  Flat feet  Crowded teeth  Stretch marks on the skin  dural ectasia SYMPTOMS

6.  Sudden collapsed lung  Aortic enlargement  Severe near-sightedness  Dislocated lens or retina  Detached retina  Early glaucoma and cataracts NON-VISIBLE SYMPTOMS

7.  A complete physical exam  Echocardiogram  Electrocardiogram (EKG)  An eye examination  CT or MRI  Genetic testing DIAGNOSIS

8.  No specific treatment  Routine doctors appointments  Surgery  Medication  Low blood pressure drugs TREATMENT

9.  Affects the body’s connective tissues  Mutation on gene FBRN-1 on chromosome 15  Inherited/ New Mutation  Causes elongated limbs or severer symptoms  No set treatment SUMMARY

10.  Aortic Enlargement. N.d. Photograph. Study Blue, n.p.  Cataracts. N.d. Photograph. NY times, New York City.  Electrocardiogram. N.d. Photograph. Encyclopedia Britannica, n.p.  "The Facts." Marfan Association Victoria. N.p., n.d. Web. 10 Dec. 2013.  "FBN1." - Fibrillin 1. Genetics Home Reference, Mar. 2012. Web. 10 Dec. 2013.  "Genetic Testing for Hereditary Diseases - Summary." Genetic Testing for Hereditary Diseases - Summary. N.p., n.d. Web. 10 Dec. 2013.  "KidsMD Health Topics." Marfan Syndrome | Boston Children's Hospital. Boston Children's Hospital, n.d. Web. 10 Dec. 2013.  Low Blood Pressure Drugs. N.d. Photograph. The Health Success Website, n.p.  "The Marfan Foundation." Know the Signs. Fight for Victory. Marfan Foundation, n.d. Web. 10 Dec. 2013.  "Marfan Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR- NCATS)." Marfan Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS). N.p., 25 Feb. 2011. Web. 10 Dec. 2013.  "Marfan Syndrome." Marfan Syndrome. David Darling, n.d. Web. 10 Dec. 2013. WORK’S CITED