What is Marfan syndrome?

Marfan syndrome is a genetic disorder which affects the connective tissue and may cause heart problems. 

Connective tissue is found throughout the body giving it structure, so Marfan syndrome can affect the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs. 

People with Marfan syndrome are often tall and slender with particularly long fingers (arachnodactyly to use the medical term – which translates as spider fingers); however, it’s not always easy to tell if someone has the condition. 

Although Marfan syndrome is considered rare, about 1 in 5,000 people have the condition. Men and women of all races and ethnic groups are affected and it can greatly vary in terms of expression. 

Some people are quite mildly affected, for others it is a potentially life-threatening condition, due to associated heart problems. Diagnostics used to be done by physical examination, but now there is a gene test available.

Signs someone has Marfan Syndrome

  • Long arms, legs and fingers
  • Hypermobility
  • Double-jointed fingers/ thumbs
  • Tall and thin body type
  • Sunken chest (Pectus Excavatum)
  • Pigeon chest (Pectus Carinatum)
  • Protuding hip bones (in both men and women)
  • Flexible joints
  • Flat feet
  • Crowded teeth
  • Long slim face 
  • Stretch marks on the skin unrelated to weight gain or loss

It’s estimated that nearly half of those who have Marfan syndrome are unaware. It’s very important that individuals with the condition seek diagnosis. With the right care, those with Marfan’s can have a normal life span. However, for those undiagnosed and untreated, the average age of death is 32.

What causes Marfan syndrome?

Most incidences of the condition – about 75% – are inherited. The condition is autosomal dominant, which means an affected individual has one copy of the gene which causes the condition, and one normal gene on a pair of autosomal chromosomes. When they go on to reproduce, they pass one of the genes on to their offspring. It’s a bit like flipping a coin as to whether the gene is passed on. So affected parents have a 50% chance of passing on Marfan syndrome. In 25% of cases, the condition is caused by a spontaneous mutation in the gene – a baby with Marfan syndrome will be born to two unaffected parents.

Marfan syndrome occurs because of a fault on the FBN1 gene. This is the gene that is involved in the production of the protein fibrilin, and gives skin and connective tissue its stretchy feel. 

The reason people grow so tall with Marfan syndrome is that this fault, or mutation, results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes issues in connective tissues throughout the body, making the bones grow longer and the skin to become weaker. Most importantly, it leads the heart vulnerable to aortic dissection. This can be a cause of sudden death in some people with undiagnosed Marfan syndrome – lifting heavy weights and contact sports is discouraged if you have the condition. The volleyball player Flo Hyman died in 1986 while playing, aged 31, due to complications from undiagnosed Marfan Syndrome. 

Health problems associated with Marfan syndrome

  • Weakening or bulging of the aorta
  • Feeling tired all of the time
  • Poor muscle tone
  • Dislocation of joints
  • Scoliosis
  • Extreme nearsightedness
  • Poor circulation
  • Easy bruising
  • Lung problems
  • Pain in the lower back
  • Dural ectasia
  • A higher likelihood of Attention Deficit Hyperactivity Disorder (ADHD)

Neonatal Marfan syndrome

Marfan syndrome is always present from birth – it’s not something that can be caught or develop later, but it usually becomes more obvious or pronounced as a person gets older. If a parent has the condition, it’s more likely to be diagnosed in a baby, as doctors will be aware of the family history.  The term neonatal Marfan syndrome is used to describe children who have pronounced symptoms and significant cardiovascular problems in very early infancy. It is rare and should be seen as a separate condition from Marfan syndrome. Unfortunately, neonatal Marfan syndrome has a poor prognosis, with 95% of patients dying within the first year of life. It's important to remember, the majority of people with Marfan syndrome will have good prognoses with the right care. 

Does Marfan Syndrome affect intelligence and learning?

Those with Marfan syndrome have normal intelligence, with the same IQ levels as the general population. Indeed, there are plenty of high-achieving individuals with Marfan Syndrome working in business, law and medicine. It is widely believed that Abraham Lincoln had Marfan Syndrome. One ingenious patient with the condition, engineer Tal Golesworthy, a chartered engineer, used his skills to develop a new medical device Personalized External Aortic Root Support (PEARS) as a treatment for dilated aortas. He was the first person to be fitted with the device.

There is some evidence that there is a higher prevalence of Attention Deficit Hyperactivity Disorder (ADHD) in individuals with Marfan Syndrome, as is the case with other connective tissue disorders. If children with Marfan Syndrome show signs of a lack of focus, they should be given appropriate help. However, it is widely accepted that ADHD may also increase creativity. 

This may explain why there are have been many people with Marfan syndrome who have excelled in the creative arts, such as composers Sir John Tavener, Sergei Rachmaninov and pianist Niccolò Paganini and actor Vincent Schiavelli. Joey Ramone of the punk band The Ramones also had Marfan syndrome, as does Bradford Cox, actor and singer of rock band Deerhunter. 

Marfan Syndrome can bring health challenges and, for young people, bullying if they look tall and lanky. However, given the right medical and emotional support, there is no reason why those with Marfan Syndrome should not flourish in life.

For more information: The Marfan Trust

An abbreviation for antidiuretic hormone. Full medical glossary
The body's main artery, which arises out of the heart and supplies blood to all other parts of the body. Full medical glossary
A fluid that transports oxygen and other substances through the body, made up of blood cells suspended in a liquid. Full medical glossary
The basic unit of all living organisms. Full medical glossary
Structures in the cell nucleus that carry genetic information. Full medical glossary
A condition that is linked to, or is a consequence of, another disease or procedure. Full medical glossary
A type of tissue made up of fibres forming a framework and support structure for body tissues and organs. Full medical glossary
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foreign body Full medical glossary
The basic unit of genetic material carried on chromosomes. Full medical glossary
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A chemical that stimulates new cell growth and maintenance in the body. Full medical glossary
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Tissue made up of cells that can contract to bring about movement. Full medical glossary
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Relating to blood vessels. Full medical glossary