Journal du syndrome de Down et des anomalies chromosomiques
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Marfan Syndrome

Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue holds all the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and mature properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.about 1 in 5000 people having Marfan syndrome. Symptoms of Marfan syndrome are flat feet, learning Disability, Hypotonia, small lower jaw, Heart murmurs etc.

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