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A matter of debate among medical historians is whether Abraham Lincoln had Marfan syndrome, an inherited connective tissue disorder. Lincoln's famously gaunt appearance is far from definitive proof, but he did have certain physical traits commonly associated with Marfan syndrome. These include an extremely tall, slender build, a narrow face, loose joints, and spinal or chest wall abnormalities.

Yet signs and symptoms of Marfan syndrome can vary greatly from person to person. The disorder affects connective tissue — the fibers that provide the framework and support for your body. As a result, Marfan syndrome can harm many different body systems, including your heart and blood vessels, eyes, skin, and skeleton. In some cases, the damage may be relatively mild, but in others, it can be severe.

In general, the most serious effects of Marfan syndrome involve the aorta, the large artery that carries blood from your heart to the rest of your body. The disease weakens the connective tissue in the walls of the aorta, making it more likely that the artery will enlarge, tear or rupture — circumstances that can be life threatening.

Marfan syndrome is serious, but advances in treatment have greatly improved the outlook for people with the disease. With early diagnosis and careful management, most people with Marfan syndrome can live fully productive lives.

Because Marfan syndrome can affect so many body systems, the signs and symptoms of the disease vary greatly, even among members of the same family. Some people experience only mild effects, whereas others have severe problems. In most cases, the disease tends to worsen with age.

The most common traits and problems associated with Marfan syndrome include the following:

Physical appearance
Many, but not all, people with Marfan syndrome share certain physical characteristics. They're often tall and slender, with spidery fingers and toes (arachnodactyly) and legs and arms that are disproportionately long for the rest of their body.

People with Marfan syndrome also tend to have:

• Loose, excessively flexible joints
• Curvature of the spine (scoliosis)
• A breastbone that protrudes outward (pectus carinatum) or is concave (pectus excavatum)
• A narrow face
• A high, arched palate and crowded teeth
• Flat feet

Heart and blood vessels (cardiovascular system)
The great majority of people with Marfan syndrome have heart and artery problems. These are the most serious aspects of the disease and account for the majority of deaths. They include:

• Aortic aneurysm. This is a bulge in the aorta, the large artery that runs from your heart down the center of your chest, through your abdomen and eventually splits into two arteries, one of which serves each leg.

  In people with Marfan syndrome, the walls of the aorta are inherently weak. The aneurysm usually originates at the point where the aorta leaves the heart and may extend into the abdomen. Over time, the constant pressure of blood through the weakened aorta can cause the aneurysm to enlarge further.

  Complications of aneurysms include rupture and aortic dissection (see below). Rupture of the aorta will lead to life-threatening internal bleeding if not treated promptly with surgery. In general, the larger the aneurysm, the greater the risk of dissection and rupture. If you have Marfan syndrome, your doctor is likely to check for early signs of an aneurysm and monitor the size of the aorta regularly.

• Aortic dissection. This occurs when a tear develops in the wall of your aorta. Aortic dissection is a particular concern for people with Marfan syndrome because the aorta is more fragile than it is in other people. This inherent weakness causes the aorta's walls to stretch (aortic dilation) and, in time, to tear or even rupture if the dilation isn't treated with replacement. Fewer than half the people who experience an aortic rupture survive.

  A weakened or enlarged aorta may not cause any symptoms, although leaking of blood back into your heart may make you feel short of breath during routine activities. But aortic dissection is likely to cause sudden, severe, stabbing or ripping pain just under your sternum that radiates straight through to your back.

• Mitral valve prolapse. The mitral valve separates the two chambers on the left side of your heart: the left atrium and left ventricle. In Marfan syndrome, the valve may be long and floppy so that the twin flaps (leaflets) of tissue that make up the valve billow up when the left ventricle contracts and fail to close correctly. This allows blood to leak from the ventricle back into the atrium. Using a stethoscope, your doctor may hear a clicking sound as the valve's leaflets billow out, and then a murmur from blood flowing back into your atrium.

  Although mitral valve prolapse may not cause symptoms, complications can occur if the valve is especially leaky and the backflow of blood (mitral valve regurgitation) is large. In severe cases, you may have trouble catching your breath or your heart may enlarge because it has to work harder to get blood out into your body. This can lead to abnormal heart rhythms (arrhythmias) and to congestive heart failure, which occurs when your heart can't pump enough blood to meet your body's needs. Because the mitral valve is abnormal, you'll also be more prone to valve infection (endocarditis).

Eyes
Most people with Marfan syndrome have some sort of vision problem, such as:

• Shifting (dislocation) of the lens in one or both eyes because of weakness in the ligaments that hold the lens in place.
• Extreme nearsightedness (myopia).
• Glaucoma, a condition in which abnormally high pressure within your eyes damages the optic nerve. Signs and symptoms may range from sensitivity to light and glare to severe eye pain, blurred vision and blindness.
• A cataract, which clouds the eye's normally clear lens.
• Detachment or tear in the retina, the light-sensitive tissue that lies smoothly against the inside back wall of your eye and sends messages to your brain through your optic nerve

Skeleton
Because people with Marfan syndrome often have unusual bone growth and weak ligaments, they're prone to a number of skeletal problems, such as:

• Scoliosis. About half the people with Marfan syndrome develop scoliosis, a condition in which the bones of the spine (vertebrae) twist into an S or C shape. But only about a third of these people have scoliosis severe enough to need treatment.

  The spinal curvature is measured by the angle between the vertebrae as seen on an X-ray and is expressed in degrees. The curve can occur in your upper or lower spine and may be relatively slight (less than 20 degrees) or large (more than 70 degrees).

  When the curve is severe, your rib cage may press against your lungs, making it difficult to breathe. A curve greater than 100 degrees can impair the function of your heart and lungs and increase your risk of pneumonia and other lung infections. Scoliosis also puts you at higher risk of bone loss (osteoporosis), chronic back pain, and inflammation and arthritis of the spine (spondylosis). A brace or surgical treatment may be needed.

• Spondylolisthesis. This occurs when one vertebra slips forward over another, often near the end of your spine. Anyone can develop spondylolisthesis, but it's much more common in people with Marfan syndrome. Although it usually doesn't cause permanent damage, spondylolisthesis can lead to back pain and stiffness.
• Foot pain. People with Marfan syndrome often have long, slender feet with arches that are flatter than normal. Because the feet are delicate, they're not able to withstand the ordinary stresses placed on them, which may lead to chronic foot pain. Using special cushions, inserts or orthotics and wearing comfortable, low-heeled shoes can usually help.

Other problems
Marfan syndrome may cause other signs and symptoms, such as:

• Stretch marks. These pink or reddish streaks in your skin usually occur during pregnancy or after a rapid loss of weight. But people with Marfan syndrome often develop stretch marks simply because their skin lacks the internal structure to keep it resilient. The streaks frequently develop in areas of stress such as your shoulders, hips and low back. Although they may be a cosmetic concern, stretch marks are harmless and often fade over time.
• Dural ectasia. Your brain and spinal cord are surrounded by fluid that's enclosed by a membrane (dura) composed of connective tissue. Marfan syndrome can cause the dura to weaken and expand (dural ectasia) especially as you grow older. In time, the membrane may press on the vertebrae in your lower spine. You may not always be aware that this has occurred, or you may have symptoms that range from a mild aching in your lower back near your tailbone to abdominal pain, headache, and pain or numbness in your legs.

A strong, resilient framework of connective tissue supports and nourishes the elastic tissues in your body — including your skin, lungs and blood vessels. Although it varies from one part of your body to another, all connective tissue is made up of proteins, including the structural proteins collagen and elastin and specialized proteins such as fibrillin and proteoglycans. Sometimes a defect occurs in the genes that encode these proteins, leading to various connective tissue disorders.

Marfan syndrome is caused by a defect in the gene that enables your body to produce fibrillin, a protein that helps give connective tissue its elasticity and strength. Ordinarily, you have large amounts of fibrillin in your bones, your aorta and the ligaments in the lenses of your eyes. But if you have Marfan syndrome, you're likely to have too little fibrillin in these structures. This causes them to stretch abnormally when they're subjected to ordinary stress.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Marfan syndrome is an autosomal dominant condition, which means that a defective gene from only one parent is needed to pass the disease on. It also means that each child of an affected parent has a 50-50 chance of inheriting the defective gene.

In about one-fourth of people with Marfan syndrome, a mutation occurs for the first time in the egg or sperm of a parent who doesn't have a genetic abnormality, and the defect is then passed on to the child. Although it's not possible to know for certain, the likelihood is small that the mutation will recur if the same parents have other children.

Marfan syndrome is one of the most common of the more than 100 inherited connective tissue disorders. It affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.

Because many features of Marfan syndrome occur in healthy people as well as in people with other connective tissue disorders, having signs and symptoms such as flat feet or a tall, thin build doesn't necessarily mean you have the disease.

Still, if you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you will likely be referred to a specialist for further evaluation.

Marfan syndrome can be challenging for doctors to diagnose. The signs and symptoms of the disease vary widely — both in their features and in their severity — even among members of the same family. What's more, many aspects of the various connective tissue disorders overlap and distinguishing among several similar diseases can be difficult.

For these reasons, researchers have established guidelines, known as the Ghent criteria, to aid in diagnosis. The criteria are divided into major and minor categories.

Major criteria are features that are more likely to occur in people with Marfan syndrome but seldom in the general population. Minor criteria occur in people who have the disease as well as in those who don't.

If you have a family history of Marfan syndrome, you must have one major criterion in one organ system and the involvement of another organ system to receive a diagnosis of the disease. Two major criteria affecting different organs and the involvement of another organ are required if no other family members have the disorder.

Major criteria for Marfan syndrome include the following:

• An enlarged aorta, with or without an aneurysm
• Aortic dissection affecting the ascending aorta
• Dislocation of the lens of an eye
• Dural ectasia, expansion of the membrane that encloses the fluid around your spinal cord
• At least four skeletal problems such as chest deformities; long, thin arms and legs; flat footedness and scoliosis
• Family history — having a parent, child or sibling who meets the diagnostic criteria for Marfan syndrome
• Having an abnormal gene known to cause Marfan syndrome

Evaluation
Most often, you'll be evaluated for Marfan syndrome by a team of specialists that may include:

• A doctor who treats problems of the cardiovascular system, including the heart, veins and arteries (cardiologist)
• A doctor who specializes in medical and surgical care of the eyes (ophthalmologist)
• A doctor who treats diseases and injuries of the musculoskeletal system (orthopedic surgeon)
• A doctor who specializes in inherited diseases (medical geneticist).

The medical geneticist or cardiologist usually coordinates the various tests and evaluations.

An initial evaluation for Marfan syndrome is likely to consist of:

• A complete family and medical history. This includes both your own health history and the histories of other members of your family. Because Marfan syndrome is inherited, a family history is important in determining whether you have the disease.
• A detailed physical examination. As part of the exam, doctors will carefully assess your skeletal system, skin, heart and lungs.
• An eye exam. This is performed by an ophthalmologist using a magnifying microscope with an attached light (slit lamp).
• Echocardiogram (echocardiography). This noninvasive test uses sound waves to generate continuous pictures of your heart on a monitor. Variations of a standard echocardiogram, such as transesophageal echocardiography, may be used to check for aortic dilation or for mitral valve prolapse.

You may also have other imaging tests, such as:

• Chest X-ray. A routine chest X-ray may be the first indication of dilation of the aorta, but a normal chest X-ray doesn't exclude enlargement of the aorta.
• Magnetic resonance imaging (MRI) or computerized tomography (CT). These scans can help your doctor determine whether you have dural ectasia and may also be used to examine your aorta and other blood vessels. MRI may also be used to monitor an enlarged heart.

Diagnosis in children
Diagnosing Marfan syndrome in children can be especially difficult, primarily because many features of the disorder may not appear until adolescence. What's more, some of the same factors that confound diagnosis in adults also apply to children. Among these are the great variability in signs and symptoms, the stringent diagnostic criteria and the existence of many conditions that closely resemble Marfan syndrome.

For all these reasons, it may not always be possible to definitively diagnose the syndrome in children. Although this can be frustrating for parents, doctors who suspect Marfan syndrome will carefully monitor a child over time. In addition, treatments for problems commonly associated with Marfan syndrome, such as scoliosis, nearsightedness and aortic enlargement, remain the same no matter what the cause.

Genetic testing
At present, there's no genetic test that can definitely establish or rule out a diagnosis of Marfan syndrome. Although several types of tests exist, all have drawbacks. Some may fail to find any genetic defect in a person who has the syndrome, for example. And some tests may confuse Marfan syndrome with other connective tissue disorders. In addition, no genetic test can predict the severity or ultimate course of the disease.

Still, genetic testing can be helpful in some cases. For example, if you've received a diagnosis of Marfan syndrome, a genetic test may identify the specific defect so that other family members can be tested. It can also be helpful when planning a family. For more information about genetic testing, talk to a medical geneticist who can fully explain the pros and cons of these tests. Or contact the National Marfan Foundation at 800-8-MARFAN, or 800-862-7326.

Because Marfan syndrome can affect almost any part of your body, it may cause a wide range of complications, especially some that involve your heart, eyes and lungs.

Cardiovascular complications
The most serious complication of Marfan syndrome is aortic dissection or rupture — the main cause of death among people with the disease.

Other cardiovascular complications include:

• Mitral valve regurgitation. This occurs when the mitral valve on the left side of your heart doesn't close tightly, allowing blood to flow backward in your heart. Severe mitral valve regurgitation can lead to heart arrhythmias and to symptoms ranging from breathlessness to congestive heart failure.

• Endocarditis. This serious infection of your heart's inner lining (endocardium) occurs when bacteria or other harmful organisms spread through your bloodstream and lodge on one of the valves in your heart or in other heart tissue. Left untreated, endocarditis can damage or destroy your heart valves and it can be fatal.

  At particular risk are people who already have valve problems, such as mitral valve prolapse, or who have an artificial or repaired valve — all of which are common in Marfan syndrome. If you have significant mitral regurgitation, your doctor will prescribe antibiotics before dental work — including cleaning, filling and extraction — and before surgery or any procedure that carries a risk of infection.

Eye complications
The lens is a transparent structure in your eye. It's located directly behind your pupil and is anchored by fine ligaments. When these ligaments break, either because of trauma or inherent weakness, the lens shifts out of position. The result is usually blurred and double vision (diplopia), which may be more or less severe depending on the degree of dislocation.

A dislocated lens (ectopia lentis), which usually occurs in childhood, is often the first indication of Marfan syndrome. Affecting more than half the people with the disorder, the dislocation occurs because the ligaments that hold the lens in place lack strength and resilience.

Although the damage is permanent, blurred vision usually can be corrected with special glasses or contact lenses. Another serious eye complication that occurs in people with Marfan syndrome is a detached retina. This occurs when your retina, a thin layer of tissue on the inside of the back wall of your eyeball, separates from the network of veins and arteries that nourishes it (choroid). Retinal detachment almost always leads to blindness if not treated promptly.

Lung complications
Marfan syndrome can cause breathing difficulties, either from connective tissue deficiencies or from chest wall abnormalities. Severe scoliosis or a concave chest, for instance, may restrict your breathing, causing you to feel short of breath during mild or moderate activity. And changes in lung tissue put you at higher risk of asthma, emphysema, pneumonia and a collapsed lung (pneumothorax). Sleep apnea, an abnormal breathing pattern that occurs during sleep, also appears to occur with increased frequency in people with Marfan syndrome.

Complications of pregnancy
Women with Marfan syndrome face possible complications during pregnancy. The main threat is a rapid increase in the size of your aorta, leading to life-threatening aortic dissection or rupture. Although the risk of dissection during pregnancy is unpredictable, it's generally low if your aorta isn't enlarged before you become pregnant. But if your aorta is even slightly enlarged, the risk increases greatly. Pregnancy isn't recommended if your aorta is enlarged.

If you decide to have a child, you'll need a thorough physical examination and evaluation before you become pregnant. If you become pregnant, you'll need close monitoring by your doctor throughout your pregnancy. This includes regular echocardiograms. When these tests indicate aortic enlargement, you may be hospitalized or put on extended bed rest at home to reduce your blood pressure.

No treatment exists for Marfan syndrome itself. Instead, therapy often focuses on preventing the various complications of the disease. For that reason, the treatment you receive will depend on the nature and severity of your symptoms.

Cardiovascular problems
Two main approaches exist for treating cardiovascular complications:

• Medications. Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection, even though your blood pressure may be normal. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force, and reduce your risk of aortic dissection and rupture.

  If you can't tolerate the side effects of beta blockers — which may include unusual tiredness, diarrhea or nausea — your doctor may prescribe a calcium channel blocker, angiotensin-converting enzyme inhibitor or angiotensin receptor blocker instead. Children often receive the same medications as adults, sometimes beginning as early as 2 years of age.

  Doctors may recommend medications for treatment of dissections involving the descending aorta.

• Surgery. If your aorta enlarges quickly or reaches a certain size, your doctor may recommend an elective operation to replace a portion of your aorta and often the aortic valve (composite graft repair). If your aortic valve is functioning well, the surgeon may recommend replacement of the aorta only (valve-sparing technique). The extent of the operation depends on how much of your aorta is involved. Some people with Marfan syndrome may require multiple operations.

  In life-threatening situations such as aortic rupture or dissection involving the ascending aorta — the portion arising first from your heart — surgery is the only treatment option.

Skeletal problems
Many of the skeletal problems that affect people with Marfan syndrome also occur in the general population and are treated the same way. They include:

• Scoliosis. For some children and adolescents, doctors recommend a back brace — a custom-made, plastic garment that extends from the shoulders to the waist. Although it can't permanently straighten the spine, it may help stop spinal curvature from becoming worse while children are growing. For that reason, it's worn nearly continuously until growth is complete.

  If the curve in your child's spine is too great, a brace may not be effective, however. In that case, an operation to straighten the spine may be an option. Doctors typically recommend surgical treatment for children or adolescents whose curves are greater than 40 to 50 degrees, and the operation is generally successful in improving both posture and back function.

  The most common surgical procedure for scoliosis is posterior spinal fusion and instrumentation. In this procedure, your surgeon removes pieces of bone from your child's pelvis and places them between two or more vertebrae. Eventually, the vertebrae and the pieces of bone grow together. Metal rods, hooks, screws and wires are inserted to keep the curve from moving until the fusion becomes solid. Scoliosis surgery is one of the longest and most complicated orthopedic surgical procedures performed on children. After surgery, your child will need to curtail normal activities for several months.

• Concave chest. When a concave chest affects your child's breathing, surgery may be an option. The operation consists of raising the sternum and ribs and holding them in place. This may be accomplished using a metal bar, which is later removed. A convex chest doesn't cause functional problems, but it may be a cosmetic concern and can also be corrected surgically.

Eye problems
Because of the eye problems that can occur with Marfan syndrome, doctors usually recommend an annual eye exam for people with the disease. These problems include:

• Dislocated lens. In younger children, a dislocated lens can be treated effectively with glasses or contact lenses that refract around or through the lens. Adolescents who find glasses cosmetically unacceptable or their visual field too restricted may be candidates for a type of intraocular lens implant. This operation should be performed by an ophthalmologist experienced in treating people with Marfan syndrome.
• Glaucoma. Having Marfan syndrome makes you far more likely to develop glaucoma. Glaucoma can't be cured, and damage to your optic nerve caused by the disease can't be reversed. But the disease can be controlled with early detection and treatment. Eyedrops, oral medications and surgical procedures can prevent or slow further damage. You'll need to continue treatment for the rest of your life, and because the disease can progress or change without you being aware of it, your treatment may change over time.
• Cataracts. This clouding of the normally clear lens of the eye is much more common in people with Marfan syndrome than it is in people who don't have the disorder. If you have cataracts, you may want to consider surgery when vision loss starts to interfere with everyday activities. In general, cataract surgery is very successful at restoring vision. But because people with Marfan syndrome are at risk of surgical complications, it's important to have the surgery performed by a doctor familiar with Marfan syndrome.

There's no known way to prevent Marfan syndrome. Even if people with the genetic defect that causes the disease choose not to have children, new mutations can occur. Still, if you have Marfan syndrome and are considering having children, you may find it helpful to talk with a medical geneticist or genetic counselor. These professionals can help you and your partner understand the inheritance pattern of Marfan syndrome and the options that are available to you.

If you have an infant with signs of Marfan syndrome, have your baby monitored closely on an ongoing basis — even if your doctor isn't able to make a definitive diagnosis. Early detection and treatment of the various aspects of the disorder can help your child live an active, productive life.

Depending on your risk of heart, eye or skeletal complications, your doctor may recommend that you avoid contact sports, such as football or basketball, and other strenuous activities that strain your muscles, ligaments and aorta, such as weightlifting.

Still, try to remain as active as possible, engaging in noncompetitive activities approved by your doctor — usually ones that allow you to control when you start and stop. Regular exercise helps to control blood pressure and improve muscle tone, which in turn can help prevent some of the complications of Marfan syndrome.

Living with a genetic disorder can be extremely difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children.

But Marfan syndrome can be even harder on young people, especially because the often inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.

Providing emotional, practical support
Working together, parents, teachers and medical professionals can provide children with both emotional support and practical solutions for some of the more distressing aspects of the disease. For example, children with Marfan syndrome may struggle in school because of eye problems that can easily be corrected with glasses or contact lenses. And difficulty with fine-motor skills — often the result of loose joints and underdeveloped muscles — can be remedied by allowing students to use laptop computers in the classroom or by giving them more time on handwritten assignments.

For most young people, though, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions: contact lenses instead of glasses; a brace for scoliosis; dental work for crowded teeth; and clothes that flatter a tall, thin frame.

In addition to helping children feel that they look more like their peers, parents can make their lives as normal as possible. Emphasize what young people can do, rather than what they can't. For instance, children who are at risk of aortic enlargement or dissection need to avoid contact sports and weightlifting, and sometimes to limit exercise in general. Still, parents can encourage children to stay active. The less restricted a child's lifestyle, the more likely he or she is to feel self-confident and accepted.

In the long run, accurate information about the disease, good medical care and strong social support can help both children and adults cope with Marfan syndrome.