Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support and structure to various tissues and organs. It is caused by changes in the gene that instructs the body to make fibrillin, a protein that helps give connective tissue its strength and flexibility. Marfan syndrome can affect many parts of the body, including the heart, blood vessels, bones, joints, and eyes. People with Marfan syndrome may be tall and thin with disproportionately long arms, legs, fingers, and toes. They may also have chest deformities, scoliosis, and a higher risk of developing heart problems. Treatment typically focuses on managing symptoms and preventing complications through regular monitoring and medical actions such as medications, surgery, or other specialized treatments.

英語での「Marfan syndrome」の定義と意味

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