What is Marfan syndrome?

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 predisposes to medical problems affecting the heart, eyes and skeleton, requiring treatment to prevent serious complications.

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.

Males and females are affected equally. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome.

For more general information please read our Guide to Marfan syndrome

The Marfan Trust: Liam's story
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