Marfan Syndrome Symptoms | What Is Marfan Syndrome
Marfan syndrome is a connective tissue disorder characterized by unusually long fingers and toes (arachno- dactyly) hypermobility of the joints; subluxation of the ocular lenses; other eye abnormalities including cataract, coloboma, megalocornea, strabismus, and nys- tagmus; a high-arched palate; a strong tendency to scol-iosis; pectus carinatum; and thoracic aortic aneurysms due to weakness of the media of the vessels. Serum mucoproteins may be decreased, and urinary excretion of hydroxyproline increased. The condition is easily confused with homocystinuria, because the phenotypic presentation is identical. The two diseases are differentiated by detecting homocystine in the urine of patients with homocystinuria. Treatment is usually supportive for associated problems such as flatfoot. Scoliosis may involve more vigorous treatment by bracing or spine fusion. The long- term prognosis has improved for patients because better treatment for their aortic aneurysms has been devised.
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