- Marfan syndrome is an inherited disorder of the body's connective tissue that affects men and women of any race or ethnic group
Marfan syndrome was identified in 1896 by a French physician, Antoine Marfan. The syndrome is an inherited disorder of the body's connective tissue which affects the heart, eyes and skeleton in handicapping, painful and even mortal ways.
Those affected suffer from one or more of the following problems:
- eyes - dislocation of lenses, short-sightedness, retinal detachment, glaucoma
- skeleton - excessive height with long limbs and fingers, flat feet, protruding or indented chest bone, loose joints, scoliosis, early osteoarthritis
- heart - ballooning and potentially fatal tearing of the aorta, backward billowing of the heart's valves
Sufferers can live with the first two problems - the last can cause death at an early age unless diagnosed in good time and treated medically and surgically.
Genetic
Males and females are affected equally. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome.
Children and Adolescents
Children and adolescents with Marfan syndrome look and feel different and restrictions are imposed on them because of their poor eyesight, lax painful joints and cardiac problems. Even the games other children play are frequently too dangerous for children with Marfan syndrome.
People with Marfan Syndrome
Currently there are 10,000 patients with Marfan syndrome in the UK alone, and over a third die in early adulthood. Many of these deaths could be prevented with early diagnosis and effective treatment. Many other people who are affected lead severely restricted lifestyles.
Information very kindly provided with permission from the Marfan Trust
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