Connective Tissue Disease

  Marfan syndrome

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, “spider-like” fingers. Other problems include skeletal malformations; abnormal position of the lens of the eye; and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death.

This disorder results from mutations in the gene that determines the structure of fibrillin-1, a protein important to connective tissue.

Some Common Heritable Disorders of Connective Tissue

  • Ehlers-Danlos syndrome symptoms include changes in skin, joints, blood vessels, and other tissues such as ligaments and tendons.


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