Mendelian Trait- Marfan Syndrome

    

Marfan Syndrome is a genetic disorder that affects the connective tissue in one’s body. Connective tissue is significant in our bodies because it hold the cells, organs, and tissues together. The Marfan Syndrome is caused by the gene that makes the protein, Fibrillin-1, has a defect or mutation which causes an increase in a protein called transforming growth factor beta. It can create many problems related to the syndrome and other disorders. The Marfan Syndrome can affect different areas around the body because connective tissue is found everywhere like in the heart, blood vessels, joints, bones, and eyes. The syndrome doesn’t affect intelligence, but may affect the lung, skin, and nervous system. People with Marfan Syndrome are usually tall and thin with abnormally long arms, legs, toes, and fingers. There is no cure for the syndrome but taking medications to keep the blood pressure low to keep the aorta safe is important because getting the aorta blocked can be life-threatening. The syndrome is an autosomal dominant disorder, so 75% of the time is inherited from their parents and 25% is a new mutation. The parents have a 50% chance of passing it down to their children. Marfan Syndrome symptoms and features may not be visible to some people from a young age, but if someone knows their family members have it, it is important to have a checkup to start treating it right away.

Cites: https://www.marfan.org/about/marfan

https://en.wikipedia.org/wiki/Marfan_syndrome

http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/home/ovc-20195407

 

 

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