Marfan syndrome
Description:
Marfan syndrome is a disorder of the connective tissue. Connective tissue is found all over the body. While this syndrome affects the connective tissue it also affects the skeletal systems (bones), cardiovascular (heart), skin and eyes. A person with this syndrome is usually skinny, tall with long arms and legs, with long spider like fingers and a hole in their chest. The disease is classified as autosomal dominant.


Inheritance:
This syndrome is inherited which means it can be passed down through families if one of the parents has it. If one of the parents has it there is a fifty percent chance of the offspring to get the disease. If none of the parents have it then the children will not be affected with the syndrome. None of the offspring could be a carrier of this genetic disorder. This disease is autosomal dominate which means it can only be passes down if one of the parents is affected with this disease.


Symptoms:
The symptoms of this disease are:
v Flat feet
v Funnel chest which is this is a hole in the middle of their chest,
v Coloborna a defect of the iris
v Crowded teeth.
v Hypertonia is the tension on muscles and arteries,
v Learning disabilities,
v Movement in the lens in eyes,
v Near sightedness,
v Scoliosis which is a curve in the spin,
v Small lower jaw,
v Long legs and arms,
v A thin narrow face


Daily Life:





Diagnosis: They would take an eye exam to check for a distillation in the eye. This syndrome is created by one gene on chromosome fifteen. They also go to a doctor that checks there valves and aorta. Heart rate and rhythm. They take CT scans or MRI of the lower back. They also check for collapsed long heart valve problem. The doctors they see is a geneticist, cardiologist, aphthalogist, and orthopedist for these problems.


Treatment:
They take treatment for cardiovascular problems are critical. The aorta must be monitored for weakness. Drugs can help reduce stress experienced by the aorta but surgery may be needed to replace a vessel. They take medication for the heart.



Research:
There is no cure for Marfan syndrome. There is a recent study taking place of this syndrome. People can volunteer to help the study of Marfan syndrome but there is no cure. Only medication can help. Doctors can treat all symptoms.


Additional Facts:
Most people with Marfans disease die around at the age of 60. This disease is based on family history. People with Marfans disease have flexible fingers the also have long hands arms and legs. Dominate gene Protein fibrin. They also have a hole like tunnel in the middle of their chests. In addition, they also need four doctors a geneticist, gene doctor, cardiologist heart doctor, aphthalogist eye doctor, and orthopedist bone doctor.


Punnett Square:

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Pedigree Chart:


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Pictures:
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Resources:

Include hyperlink to websites that you used as part of your research.




http://www.webmd.com/heart-disease/marfan-syndrome-11035

http://www.nlm.nih.gov/medlineplus/marfansyndrome.html

http://ygyh.org/marfan/whatisit.htm

http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=marfan%20syndrome&alt=sh