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Connective tissue plays an important role in fetal development, growth after birth, the cushioning of joints and the passage of light through the eyes. Some individuals with Marfan have symptoms that are so mild that they may not be noticed. Other patients may experience a wide variety of symptoms, including those of an underlying heart condition (e.g., shortness of breath, irregular pulse, and fatigue). A person with Marfan has at least three manifestations in various parts of the body and rarely has every feature. Signs of Marfan syndrome include:
- Abnormally shaped chest in which the sternum (breast bone) is either indented or protruding. Indented chests may appear more narrow and about 85 percent of Marfan patients will have abnormally shaped chests.
- Disproportionate growth, usually, but not always resulting in excessive height. Though not a health hazard in itself, this trait can cause adjustment problems in adolescents. They typically are unusually tall compared to other children their age. Their stature also makes children with Marfan syndrome appear older and they may be expected to behave more maturely than is appropriate for their age.
- Narrow face, slender limbs, and elongated fingers or toes. In addition, patients may have flat feet.
- Nearsightedness is common, and 50 to 65 percent of Marfan patients have ectopia lentis, a condition in which the lens of an eye is off-center. In addition, the white of the eye may appear bluish and the cornea may be malformed. Some patients will develop dislocation of the ocular lens (the focusing structure of the eye). In rare cases, the retina (the part of the eye that is sensitive to light) can also become detached. This can result in a sudden loss of vision that can only be repaired by an ophthalmologist (eye) surgeon.
- Curvature of the spine (scoliosis) with or without dural ectasia, the enlargement of the membrane that holds spinal fluid around the brain and spinal cord. Symptoms of dural ectasia include severe headaches and radiating pain in the legs or abdomen.
- Joint laxity (looseness) or contracture (permanent shortening of muscles, tendons, ligaments).
There are also cardiovascular signs that may be present in individuals with Marfan syndrome. The section of the aorta closest to the heart may become enlarged and bulge outward (aortic aneurysm). In addition, the layers of the ascending aorta can tear, causing blood to leak between the tissues of the aortic wall (aortic dissection). Other signs that may be assoicated with Marfan inlcude mitral valve prolapse, enlarge pulmonary artery and calcium deposits in the heart valves. |