What are the signs of Marfan Syndrome?

Knowing the signs of Marfan syndrome can save lives. It is estimated that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

Unfortunately, Marfan syndrome can be difficult to diagnose because signs of the condition vary greatly from person to person. Most affected people will not have all the signs and complications of Marfan syndrome. The most common feature is excessive height and long limbs, fingers and toes. This may be accompanied by a protruding or concave chest bone.

Other signs include dislocated lenses, short-sightedness, a high-arched palate, crowded teeth and orthodontic problems. Diagnosis [insert link to diagnosis and treatment] can be confirmed by a blood test demonstrating the abnormal gene. These tests are available through referral by your GP to a clinical geneticist at a Regional Genetics Centre.  

Those affected by Marfan syndrome suffer from one or more of the following problems:

Eyes

Dislocation of lenses, short-sightedness, retinal detachment, and glaucoma.

Skeleton

Excessive height with long limbs, fingers and toes (one of the most common features), as well as flat feet, protruding or indented chest bone, loose joints, scoliosis, and early osteoarthritis. For more information, download our Marfan Trust Guide to Musculoskeletal Problems in Marfan Syndrome.

Heart

Ballooning and potentially fatal tearing of the aorta and backward billowing of the heart’s valves. These symptoms can cause death at an early age unless diagnosed in good time and treated medically and surgically.

Ears, Nose and Throat (ENT)

ENT problems as a result of any Skeletal characteristics in Marfan syndrome. For more information, download our Marfan Trust ENT Aspects of Marfan syndrome guide.

Dental

A high-arched palate and crowded teeth. For more information, download our Dental Guide to Marfan syndrome.

Bowel gastrointestinal disturbances constituting irritable bowel syndrome (IBS) 

In the general population, IBS commonly first develops in young adults and teenagers. For more information, download Marfan Trust Bowel symptoms in Marfan syndrome guide.

For additional information:

See our short Marfan Encyclopedia of Terms, and download:

Marfan Trust Guide to Marfan syndrome
Marfan Trust Exercise Guide: Marfan syndrome
Marfan Paediatric Guide to Marfan syndrome

You can see all our Information Leaflets here. We suggest taking these guides with you when attending medical appointments.