Marfan's Syndrome is a connective tissue disorder that affects the skeletal system, eyes, skin, and cardiovascular system. This genetic condition is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1 that is needed for proper connective tissue formation. Some of the common synonyms for Marfan's Syndrome include arachnodactyly, dolichostenomelia, and homocystinuria. Arachnodactyly refers to the spider-like appearance of the fingers and toes, while dolichostenomelia describes the elongation of the limbs. Homocystinuria is another connective tissue disorder that shares some clinical features with Marfan's Syndrome, such as tall stature and lens dislocation. Early diagnosis and management of Marfan's Syndrome are crucial to prevent complications and improve outcomes.
