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Marfan Syndrome

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First described by the French physician Bernard JA Marfan in 1896, Marfan Syndrome (MFS) is a little-known genetic condition with distinctive features. It's also referred to as arachnodactyly (literally 'spider fingers').

According to the Marfan Association UK, the condition affects approximately one person in 5000, totalling 10,000 for the UK as a whole. Meanwhile, about 200,000 people in the USA suffer either from Marfan's or related connective tissue disorders.

Salient Features

Outwardly, sufferers are usually tall and thin with disproportionately long limbs. Indeed, their arms are often 10% longer than they should be. They may be scoliolitic (have a sideways twist of the spine) or kyphotic (hump-backed) and have a pigeon or stove chest. Their joint hypermobility could be such that sufferers can bend their thumbs back to touch their forearms, and their fingers back at 90 degrees, without discomfort.

Sufferers are often very myopic (short-sighted) and some have dislocation of the lens and detachment of the retina. Marfan patients may also suffer from overcrowded teeth and a high, arched palate.

The major problems affecting a person with Marfan's Syndrome are linked to the heart and major blood vessels. The aorta - the large artery carrying blood away from the heart, may become dilated. Usually the ascending aorta - the section directly after it leaves the heart - is at risk, but it can also occur further down the vessel where it leads to the abdomen and lower body. The danger with this is that a swollen area, known as an aneurysm, could eventually burst. The aorta itself is made up of two layers of tissue. These can be torn apart - a disastrous and life-threatening event, known as a dissection. Indeed, aortic dissection is the most common cause of death in Marfan patients today. This can often be prevented if it is known to be a risk factor by reinforcement with an artificial structure made from titanium.

The aortic and mitral valves of the heart can also be affected. Situated on the left side of the heart, these may become 'incompetent' and let blood through when they are closed. This means that the heart can't pump as much blood as is needed and eventually a mechanical valve may be necessary.

People suffering from Marfan Syndrome have a life expectancy of about 72 years.

What causes Marfan Syndrome?

Marfan Syndrome is caused by a fault in a gene on chromosome 15, which codes for the glycoprotein fibrillin. This is known as the fibrillin - 1 gene, or FBN1 for short. Fibrillin is a major building-block of microfibrils, which constitute the structural components of the suspensory ligament of the lens and serve as substrates for elastin in the aorta and other connective tissues throughout the body. The defect renders the tissue stretchier than it would be in a non-Marfan person. Since there is less tension at either end of the long bones, they just keep growing while the individual does, becoming abnormally elongated. Weak connective tissue also explains the 'hypermobility' of joints.

Most of the time this defective gene is inherited from a parent. However, in about 25% of cases the abnormal gene appears de novo in an egg or sperm cell, thus producing an affected child from two unaffected parents.

Marfan Syndrome is classified as an autosomal dominant disease. As it is dominant, only one copy of the defective gene is necessary before any effect is noticed. This means that someone with Marfan Syndrome has a 50:50 chance that each offspring will inherit the condition, regardless of sex. According to the Marfan Association UK, on average one in ten affected children are seriously affected.

Diagnosis of MFS

As a syndrome is a collection of symptoms, not all people who have Marfan's experience all its related problems. One of the authors of this Entry is fortunate in that at the time of writing he has good eyesight and a healthy heart, but is unlucky that the condition is unusual enough not to have been spotted until he was 31!

Generally, Marfan Syndrome is diagnosed after a careful physical examination focussing particularly on the the eyes, skeletal and cardiovascular systems.

Suspected Marfanoid patients can also be monitored by Echocardiogram (a sound-wave picture of the heart) for early signs of aneurysm or mitral valve prolapse (the valves can become floppy).

The affected gene, FBN1, was discovered in 1990 and the protein it codes for (fibrillin) was discovered the following year. This knowledge should help develop a more accurate diagnostic test which could be applied at a much earlier stage. Mutations in the FBN1 gene can be detected in 80% of patients, thus enabling family members to be screened. Diagnosis can then be confirmed by genetic linkage studies.

Consequences of Marfan Syndrome

Effects on Lifestyle

Stretchy connective tissue means that the aorta is not as strong as it should be, and is thus prone to tearing. Consequently a Marfan's person needs to avoid strenuous exercise and stress, or anything that would put the heart under excessive load. Nevertheless, a person with Marfan Syndrome still needs to be physically fit in order to maintain muscle tone, as well as ensuring the effective functioning of the heart and blood vessels. Hence golf, fishing, walking and non-competitive cycling would be ideal activities. Contact sports such as basketball and rugby are probably best avoided.

People with Marfan Syndrome are often badgered with irritating questions like, 'Why are you so tall?' and 'What's your shoe size?'.

Effects on Education

Sufferers tend to become easily fatigued, especially when extended periods of concentration are required. The pupil with Marfan Syndrome needs to be given achievable targets where they can work at a comfortable pace.

Dietary Considerations

Although no special diet is required, it would be prudent for the Marfan patient to choose their food wisely to ensure a balanced diet, rich in vitamins A and C and minerals, particularly copper, which encourage the production of connective tissue.


Smoking is known to destroy elastin, a stretchable protein found in blood vessels and the lungs where elastic fibres are required. Elastin, another component of connective tissue, is already deficient in the Marfan patient, so smoking, including passive smoking, should be avoided.


It used to be the case that Marfan's people died early of heart failure, but with modern drugs (ie, beta-blockers) and surgical intervention, longevity is now possible. Beta-blockers have been shown to slow the dilation of the aortic root.

Physiotherapy, attendance at pain clinics and bracing to stabilise curvature of the spine may be helpful with the skeletal effects. Lace-up shoes with ankle support, together with shoe inserts, may be helpful for weak ankles.

Spectacles or contact lenses may be prescribed to try and improve or correct visual defects; and surgery can replace ocular lenses and re-attach retinas.

Approximately 10% of Marfan patients suffer spontaneous pneumothorax (collapse of the lungs) and this requires hospital treatment.

Are there any famous sufferers of MFS?

Unlike many genetic anomalies, Marfan Syndrome does not adversely affect intelligence. On the contrary, these people are often bright and charismatic. Several historical figures are considered to have had Marfan Syndrome. These include:

Abraham Lincoln (1809 - 1865)

There is a serious school of thought, based upon his physical characteristics, that the 16th President of the United States, Abraham Lincoln, may have suffered from Marfan syndrome. Lincoln attained a height of six feet, four inches (1.98m) by the age of 17, at a time when the median height of adult men in the United States was five feet, six inches (1.68m). At the age of seven he was described as a 'tall spider of a boy' and as an adult he weighed between 160 and 185 pounds.

Lincoln's height came from his legs. Sitting, he was no taller than the average man. The legs sprouted from size 14 feet. (His footwear had to be custom-made.) Lincoln also had disproportionately long arms and fingers. A contemporary noted Lincoln's hands were 'very large'. However a cast of his hands shows them to be muscular and powerful, not the slender hands characteristic of Marfan syndrome.

Lincoln's height, long legs, leanness and thin face are all skeletal features of Marfan syndrome. Evidence for other symptoms of Marfan syndrome (ocular, cardiovascular) in Lincoln has been presented, but found to be weak.

In 1959, Marfan syndrome was diagnosed in a distant relative of Lincoln's (a third cousin four times removed). Sharing 1/4048th of Lincoln's genetic material, it is difficult to ascribe much significance to this fact. Although the world's greatest authority on Marfan syndrome thinks it's '50-50' that Lincoln had the condition, other geneticists think it unlikely.

Mary, Queen of Scots (1542 - 1587)

By all accounts, Mary Queen of the Scots was a striking woman. In her biography Mary Queen of Scots (Weidenfeld and Nicolson, 1970), Antonia Fraser says:

'...she was an outstandingly attractive woman, rather than an outstandingly beautiful one. Her most marked physical characteristic must have been her height. In an age where the average height of the men was considerably shorter than it is today, Mary Stuart was probably five feet, 11 inches (1.78m) tall, that is to say, taller than all but the tallest women today. She grew fast in adolescence and at her French wedding (aged 15) she is said to have stood shoulder to shoulder with her Guise uncle. Obviously she inherited this height from her mother, Mary of Guise, who in her day was celebrated for her upstanding posture...'

A little later Fraser records that,

'The portraits of Mary Stuart show that she had a small, well-turned head, and beautiful long hands.'

Also in the book, Fraser writes,

'(Pierre) Ronsard paid her superb tributes: he wrote of her hands which he particularly admired and their long ring-less fingers, which he compared to five unequal branches.'

For the 19 years before her execution at the age of 44, Mary was held in captivity. During this time, she suffered from ill-health and rheumatism. An editorial in the Journal of Rheumatology (2001) claims that the arthritis she suffered was considered by the late WSC Copeman to be rheumatoid arthritis, but was more likely a result of hypermobility due to Marfan's syndrome.

Niccolo Paganini, (1780 - 1840)

Paganini was an Italian violinist and composer who vastly extended the range and capabilities of his instrument. His seemingly superhuman abilities on the violin led some listeners to believe that he had sold his soul to the devil.

In appearance he was tall and gaunt, and contemporary caricatures depict him with his hair unkempt, resembling horns.

Dr Francesco Bennati, an eminent physician and contemporary of Paganini's, observed him in an attempt to discover the secret of his extraordinary playing ability and noted that:

'His hand is no larger than normal, but thanks to the elasticity peculiar to all its parts, his span is doubled. By these means, for example, he can - without altering the position of his hand - bend the upper joints of the fingers of the left hand in a lateral direction, with the greatest ease and rapidity.'

Indeed, the range and independence of motion of his fingers was so extraordinary, it was widely suspected Paganini had undergone a surgical procedure to cut the bands that connect the tendons. But it's also considered most unlikely that such a talented musician at the start of a promising career would have risked the safety of his hands, particularly given the primitive state of surgery back then. It's much more probable that he was born with the ability.

In an article in the Journal of the American Medical Association, dated 2 January, 1978, Dr. Myron R Schoenfeld advances the theory that Paganini was born with Marfan's Syndrome:

'The long, sinuous, hyperextensible fingers of his left hand gave them an extraordinary range of motion and freedom of independent movement on the fingerboard, while the laxness of the wrist and shoulder joint of his right upper extremity gave him the pliancy required for masterful bowing. The evidence for this hypothesis necessarily is inferential, but, I believe, convincing and even compelling.'

Schoenfeld goes on to note that 'the clinical features of Marfan's Syndrome were not even described until 1896, more than a half century after Paganini's death'. Schoenfeld also points out that Paganini lost his voice toward the end of his life and that this may have been 'the hoarseness and aphonia caused by recurrent laryngeal nerve paralysis, brought about by an expanding aneurysm of the aortic arch.'

Other scientists believe that Paganini could have suffered from a similar connective tissue disorder known as Ehlers-Danlos Syndrome.

Another famous musician well-known for the exceptional flexibility of his fingers, which could have been due to Marfan Syndrome, was the Russian pianist Sergei Rachmaninov.


The boy pharaoh Tutankhamun reigned during the Armarna Period (1353 - 1336), succeeding his father Akhenaten and Queen Nefertiti.

Although his parentage is somewhat uncertain, Tutankhamun is thought to be the son of Akhenaten's minor wife, Kiya.

Apparently Akhenaten and his 'Great Wife' Nefertiti had six daughters (one of whom may also have become Akhenaten's wife).

In a strange departure from tradition, Akhenaten had himself portrayed with female characteristics - wide hips and large breasts. It's not clear if this was a reflection of reality or was intended to be symbolic. Akhenaten and his daughters were also shown with very long heads, limbs, fingers, toes and neck. (Furthermore, even Nefertiti is sometimes shown with these deformities, although this may be due to confusion between the images of Akhenaten and Nefertiti). At one time, it was thought that Akhenaten's physical appearance may have been due to Froehlich's Syndrome, a hormonal imbalance that would have rendered him sterile. This is now discounted, particularly as he fathered six daughters as well as Tutankhamun. These days the favoured theory is that he suffered from Marfan Syndrome.

In contrast to this, the statue of Tutankhamun found in his tomb by Howard Carter in 1922, shows him to be the slender embodiment of regal elegance. Examination of the mummy revealed that he was small-boned and five feet, five inches (1.65m) tall.

However, scientists working at the University of Leiden in Holland, led by Dr Gillian Vogelsang Eastwood, have been conducting a study of some 450 items of his clothing, including 150 loincloths, taken from his tomb. From these they have been able to calculate his body measurements. They have discovered that the image of Tutankhamun has been somewhat flattering and he was, in fact, pear-shaped and suffered from a disorder which left him with large fatty hips. He had a chest size of 31 inches, a 29-inch waist and 43-inch hips.(Mummification would have removed any evidence of fat deposits) Hence it would appear that the strange body shape of Akhenaten was passed genetically to his son, Tutankhamun.

Apparently, Marfan's Syndrome gives sufferers a high sensitivity to the cold and the Dutch scientists think that this may account for the fact that Akhenaten worshipped a single sun-god.

More recently, scientists from the University of Liverpool, UK have been taking a closer look at X-Rays taken inside Tutankhamun's coffin in 1968. These show an abnormal curvature of the spine and fusion of the upper vertebrae, a condition associated with scoliosis1. It is also associated with a rare condition called Klippel-Feil syndrome, which makes sufferers look as if they have a short neck. People with Klippel-Feil have restricted movement of the upper spine and cannot turn their heads without moving the entire torso.

The fact that Tutankhamun may have had a scoliolitic condition such as Marfan Syndrome or Klippel-Feil Syndrome is supported by the fact that about 130 walking sticks were found in his tomb. He may have needed a walking stick to support himself.

Osama bin Laden?

Photographs and the FBI's physical records, provide sketchy evidence, which probably amounts to little more than wishful thinking, that the leader of Al Qaeda, Osama bin Laden, has Marfan Syndrome. He is said to be between six feet, four inches and six feet, six inches (1.93m - 1.98m) tall, which is apparently unusual for his family. He is thin, bony and has little muscle, weighing only 160 pounds. And he uses a cane - possibly the result of connective tissue or back problems. He seems to have long fingers and arms and his head appears to be elongated, with a Marfanoid facial construction. Other information suggests that he may have a heart condition.

1Although CT scanning performed by a team led by Dr Zahi Hawass (Secretary General of the Supreme Council of Antiquities of Egypt) in January 2005 found that there was no evidence of pathological scoliosis, since there is no rotation and no associated deformation of the vertebrae. The bend most likely reflected the way the mummy was positioned by the embalmers.

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