children s health issues
Marfan Syndrome
Introduction
Marfan syndrome is a rare hereditary disorder of connective tissue, resulting in abnormalities of the eyes, bones, heart, blood vessels, lungs, and central nervous system. This syndrome is caused by mutations in the gene that codes for a protein called fibrillin. Typical symptoms can range from mild to severe and include long arms and fingers, flexible joints, and heart and lung problems. The diagnosis is based on symptoms and family history. Most people with this syndrome live into their 70s. There is no cure for Marfan syndrome or any way to correct the abnormalities in the connective tissue. Marfan syndrome is caused by mutations in the gene that codes for a protein called fibrillin. Fibrillin helps connective tissue maintain its strength. Overview of Connective Tissue Disorders in Children is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. If thefibrillingene is mutated, some fibers and other parts of connective tissue undergo changes that ultimately weaken the tissue. The weakening affects bones and joints as well as internal structures, such as the heart, blood vessels, eyes, lungs, and central nervous system (the brain and spinal cord). Weakened tissues stretch, distort, and can even tear. For example, the aorta (the main artery of the body) may weaken, bulge, or tear. Weak tissues in a heart valve can cause the valve to leak. Connective tissues that join structures may weaken or break, separating formerly attached structures. For example, the lens or retina of the eye may separate from its normal attachments. 