Marfan syndrome

Posted by e-Medical PPT
Marfan syndrome is a genetic disorder of the connective tissue. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.This syndrome has a range of expressions, from mild to severe. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, the dislocated lenses, and the aortic root dilation are sufficient to make the diagnosis with confidence. There are more than 30 other clinical features that are variably associated with the syndrome, most involving the skeleton, skin, and joints.
Many individuals with Marfan syndrome grow to above average height. Some have long slender limbs with long fingers and toes (arachnodactyly). This condition of elongated limbs is known as dolichostenomelia. Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, hammer toes, stooped shoulders, unexplained stretch marks on the skin.
Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result. Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) also occurs.
Marfan syndrome is a risk factor for spontaneous pneumothorax.
Mitral valve prolapse, aortic regurgitation are commonly associated with Marfan's syndrome

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