Marfan Syndrome

Also known as

Marfan syndrome is an inherited disorder of the body’s connective tissue that affects men and women of any race or ethnic group. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Individuals with Marfan syndrome are usually tall and slender, and have elongated fingers and toes.

Condition details

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. Males and females are affected equally.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult


Affected genes identified to date

  • FBN1

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

1 in 5000

Support groups and organisations

Marfan Trust
Cardiac & Vascular Sciences
St. George’s, University of London
Cranmer Terrace
SW17 0RE
Tel SW17 0RE

Known experts

Dr Anne Childs
Field of interest
Marfan Trust
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