Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system and lungs.

Introduction

A matter of debate among medical historians is whether Abraham Lincoln had Marfan syndrome, an inherited connective tissue disorder. Lincoln's famously gaunt appearance is far from definitive proof, but he did have certain physical traits commonly associated with Marfan syndrome. These include an extremely tall, slender build, a narrow face, loose joints, and spinal or chest wall abnormalities.

Yet signs and symptoms of Marfan syndrome can vary greatly from person to person. The disorder affects connective tissue — the fibers that provide the framework and support for your body. As a result, Marfan syndrome can harm many different body systems, including your heart and blood vessels, eyes, skin, and skeleton. In some cases, the damage may be relatively mild, but in others, it can be severe.

In general, the most serious effects of Marfan syndrome involve the aorta, the large artery that carries blood from your heart to the rest of your body. The disease weakens the connective tissue in the walls of the aorta, making it more likely that the artery will enlarge, tear or rupture — circumstances that can be life threatening.

Marfan syndrome is serious, but advances in treatment have greatly improved the outlook for people with the disease. With early diagnosis and careful management, most people with Marfan syndrome can live fully productive lives.