Marfan Syndrome Hannah Larks.

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Presentation transcript:

Marfan Syndrome Hannah Larks

Information Type: Heritable condition that effects connective tissue Some symptoms are.. Tall, slender and loose jointed. Scoliosis meaning curvature of the spine. Some may develop glaucoma and cataracts which can lead to blindness. Can create heart murmur. Some may develop stretch marks and can also have sleep apnea. You can diagnose it from Medical history Prognosis: It is a life long disorder. Depending on what symptoms you have that will determine what treatment you get. Some can be an echocardiogram or eye tests, and a physical examination

Research Scientists are currently trying to find certain medications and some reliable surgeries dealing with Marfan Syndrome. A related disease has been found in mice and they are trying to further understand Marfan syndrome in humans

Chromosome Graphic

Genetic Counseling FBN1 is a large gene and mutations can be found within it, over 500 mutations identified in FBN1. Genetic counseling should be done before pregnancy since Marfan syndrome is inherited. Pregnant women have higher risks, and if the aorta (part of the arterial system, conveying blood from the left ventricle of the heart to all of the body except the lungs) is normal size then the risk decreases but doesn’t disappear.

Story A girl was diagnosed with Marfan Syndrome when she was 13, although she had been having problems since she was born. She wasn’t able to nurse until the age of 20 months so she had lost some weight. When she started walking she walked on her ankles and not her feet so the parents new something was wrong. She had to get surgery to straighten her spine and het screws and a pole to help her body hold itself. She is still alive but has to go regularly for check ups. Her name was not mentioned. Though she may seem disabled she has a great talent and love for drawing.

Credits http://www.americanheart.org/presenter.jhtml?identifier=4672 http://www.wrongdiagnosis.com/m/marfan_syndrome/intro.htm http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx http://www.squidoo.com/marfans-syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=188