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Marfan Syndrome

Marfan Syndrome . A disorder of connective tissue- the tissue that strengthens the body's structures. It affects the skeletal system, cardiovascular system, eyes, and skin. . By: Tyler Abel.

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Marfan Syndrome

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  1. Marfan Syndrome A disorder of connective tissue- the tissue that strengthens the body's structures. It affects the skeletal system, cardiovascular system, eyes, and skin. By: Tyler Abel

  2. Always, people with Marfan syndrome have at least 3 features in different parts of the body. It’s rare to find someone with every feature. • Skeletal System • Long arms and legs; long, thin fingers • Tall and thin • Spine curves • Chest sinks or sticks out • Flat feet • Flexible Joints • Crowded teeth Cardiovascular System • Enlarged Aorta (blood flow away from the heart) • Aorta tearing (separation of layers) • “Floppy” mitral valve

  3. Ocular System • Severe nearasited-ness • Dislocated lens • Detached retina • Early glaucoma • Early cataracts • Other • random stretch marks • sudden lung collapse • Swelling of the sac around the spinal column

  4. Diagnosis • The diagnosis of Marfan syndrome is based upon family history, physical examination and the presence of certain diagnostic criteria.

  5. Treatment • There should be frequent bone and eye exams. • Heart valves should be frequently measured by echocardiograms, and surgery should be regulated before the aorta gets too large. • Drugs can be given to reduce aorta swelling and reduce any pain if the spinal cord is swelling. • For lung problems breathing should be regulated and they should not smoke. • Because the body and blood vessels are so fragile certain sports need to be consulted with a doctor before going through with them. • And dentists will should know about the disease before doing certain procedures.

  6. Everyday Life Because there are so many different symptoms related with Marfan syndrome, everyday life will be different for every person with the disease. But with correct treatment and family support people with Marfan syndrome can lead a fairly normal life.

  7. New Research & Life Expectancy • New research shows that the life expectancy for someone with Marfarn syndrome should be similar to that of an average person. • The Mayo Clinic in Minnesota offers an integrated genetic, medical and surgical team of physicians in the Marfan Clinic to provide diagnosis and treatment for patients with the disease. • Genetic and reproductive counseling is also offered at Mayo Clinic as part of each patient's treatment.

  8. Genes • Marfansyndrome is caused by a mutation in the dominant FBN1 gene that is coded to make fibrillin-1. Fibrillin-1 is a protein that plays a big role in connective tissue. Without it, a protein called transforming growth factor beta (TGFB) increases.

  9. Genotypes 3 out of 4 of parents with Marfans pass this disease on to their children

  10. Stats & Facts • 1 per 5,000 people are affected by Marfan syndrome worldwide • There’s a 50% chance of parents passing it to their offspring • Some people go most of their lives not knowing they have the disease • President Lincoln had Marfan Syndrome

  11. Bibliography • "Cataract Symptoms and Treatments." Vision Health | Laser Eye Surgery | Directory | Reviews | Eyeglasses | Contact Lens | Optical Illusions. Web. 25 Feb. 2011. <http://www.eyes-and-vision.com/cataract-symptoms-treatments.html>. • "Imaging of Marfan Syndrome: Multisystemic Manifestations1." RadioGraphics. Web. 25 Feb. 2011. <http://radiographics.rsna.org/content/27/4/989/F20.expansion?ck=nck>. • "Landes Bioscience Madame Curie Database." Landes Bioscience Home. Web. 25 Feb. 2011. <https://www.landesbioscience.com/curie/chapter/4805/>. • "Marfan Syndrome Clinic, Mayo Clinic in Rochester, Minn." Mayo Clinic. Web. 21 Feb. 2011. <http://www.mayoclinic.org/cardiovascular-disease-rst/marfanclinic.html>. • "Marfan Syndrome Symptoms, Causes, Diagnosis, and Treatment on MedicineNet.com." Web. 25 Feb. 2011. <http://www.medicinenet.com/marfan_syndrome/article.htm>. • "President Lincoln and Marfan Syndrome - Lincoln and Marfan." Rare Diseases - Information About Rare Diseases. Web. 27 Feb. 2011. <http://rarediseases.about.com/cs/marfansyndrome/a/092402.htm>. • Santo, Big. ":: National Marfan Foundation." Web. 22 Feb. 2011. <http://www.marfan.org/marfan/>.

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