Marfan Trust is a charity that aims to improve and save the lives of people with Marfan syndrome. What follows is from their resources:

Travelling frequently unnoticed through everyday life is a potentially fatal condition. Marfan syndrome is a rare genetic disorder of the body’s connective tissue, affecting approximately 1 in 3,000 people. It is estimated there are 18,000 people living in the United Kingdom with the condition, 3,000 of whom are known to our medical charity. We hope to find “The Missing 15,000” as it is probable that half of these remain dangerously undiagnosed.

Put simply, in Marfan syndrome the body is missing the glue that binds it together, weakening its very structure. The condition can affect three main systems – the skeleton, the eyes, and, most life-threateningly, the heart – and any gender or ethnicity. The severity varies from person to person. 75% of patients inherit the condition whilst 25% occur as a result of a spontaneous (new) gene change. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome.

  • Approximately 200 new cases of Marfan syndrome are identified every year in the UK
  • Half of sufferers remain undiagnosed
  • 25% of calls to the Marfan Trust Helpline are from those who suspect they or a family member has the syndrome but do not know how to obtain a diagnosis

The syndrome manifests in many disparate ways which makes it difficult to diagnose:

SKELETON: Musculo-skeletal problems are common and troublesome in MFS, with Marfan patients often growing to excessive height with long fingers and hammer toes while developing curvature (scoliosis/kyphosis/lordosis) of the spine. Skeletal problems also involve abnormally shaped chest (pectus deformity) and loose joints, often causing pain and dislocation.
– Recognition from a RHEUMATOLOGIST could be the first vital step towards diagnosis of the underlying condition.

EYES: People with Marfan syndrome are generally myopic, with some experiencing dislocation of the ocular lens and retinal detachment. Strabismus (squint) and glaucoma are also ocular signs.
– Recognition from an OPTICIAN is sometimes the first vital step towards diagnosis of the underlying condition.

HEART: (cardiovascular system): 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. Doctors must listen to the heart and send patients for an echocardiogram.
– Recognition from a CARDIOLOGIST can set you on the path to diagnosis.

DENTAL: A high-arched palate and crowding of teeth with a history of tooth extraction.
– Recognition from a DENTIST is another a route to diagnosis of Marfan syndrome.

SKIN: The lack of skin elasticity in Marfan syndrome means that patients often develop stretch marks in odd places such as on the back, shoulders, knees.

The Marfan Trust is the sole charity in the United Kingdom dedicated to improving and saving the lives of those with Marfan syndrome. We provide personalised support, conduct cutting-edge research, and continue to educate the world about the condition. You can help to secure our future by becoming a member today for just £3 per month, or by donating to our charity.

Marfan Trust Marfan Awareness Pamphlet 2023

For more information, or to become a member of the trust, visit their website at, or send an email to