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from the American Academy of Orthopaedic Surgeons

Diseases & Conditions



Staying Healthy

Marfan Syndrome

Marfan syndrome is a disorder that affects connective tissue. Connective tissue works to support and give form to all parts of the body, including the organs, bones, and muscles.

Because Marfan syndrome weakens connective tissue throughout the body, it can cause a wide range of health problems. It most commonly affects the heart, eyes, bones, and joints. The more serious characteristics of Marfan syndrome — such as an enlarged aorta in the heart — can result in complications that are life-threatening if not treated.

There is no cure for Marfan syndrome. Most symptoms, however, can be treated and managed. With proper medical care, children who are diagnosed early can expect to lead successful lives with near normal lifespans.


Marfan syndrome is caused by a genetic defect in fibrillin, a protein that is important in keeping connective tissue strong.

Most people with Marfan syndrome inherit it from a parent who has the disorder, although about 25% of cases occur spontaneously as a result of a new, non-inherited defect of the fibrillin gene.

People with Marfan syndrome have a 50% chance of passing the disorder on to their children.

Approximately 1 to 2 people out of 10,000 have Marfan syndrome. It occurs equally in males and females.


Some of the more common characteristics of Marfan syndrome include being tall and thin, and having disproportionately long arms and fingers. Many people with Marfan syndrome are also extremely nearsighted. However, Marfan syndrome affects everyone differently. Children with Marfan syndrome may display just a few symptoms, or many. The symptoms may be mild or severe.

It is a combination of various characteristics — including issues with the heart, eyes, and musculoskeletal system — that may alert your child's doctor to the possibility of Marfan syndrome.

positive wrist sign for Marfan syndrome
The positive wrist sign for Marfan syndrome. When grasping the wrist of the opposite hand, the thumb and little finger overlap.
Reproduced with permission from Shirley ED, Sponseller PD: Marfan syndrome. J Am Acad Orthop Surg 2009; 17: 572-581.

Heart and Blood Vessels

Problems with the heart and blood vessels are very common in people with Marfan syndrome.

One of the most serious problems involves the aorta (the large artery that carries blood away from your heart). Weakened connective tissue can cause the aorta to enlarge (called aortic dilation). An enlarged aorta is at risk for tearing and leaking blood (called aortic dissection), which is life-threatening and requires immediate surgery.

Other heart problems common among people with Marfan syndrome include mitral valve prolapse (collapse), left ventricle dilation, and pulmonary artery dilation.

There are treatments to manage and help prevent the heart problems associated with Marfan syndrome.

  • Medications, such as beta-blockers, lower blood pressure and reduce stress on the aorta and other blood vessels.
  • Heart monitoring tests, like echocardiograms, can detect changes in the heart, including dilation of the aorta. People with Marfan syndrome should have regular echocardiograms and other tests recommended by their doctors to monitor the health of their hearts.


Children with Marfan syndrome are more likely to have eye problems, such as nearsightedness and lens dislocation (ectopia lentis). Lens dislocation often occurs before age 10, and may be the first sign that a child has Marfan syndrome.

As people with Marfan syndrome age, they become more at risk for other eye problems, including early onset of cataracts and glaucoma.

Yearly eye exams by an ophthalmologist are required to quickly identify any changes in the eye.

Bones and Joints

Differences in the bones and joints are some of the more obvious signs of Marfan syndrome. Weakened connective tissue can cause bones to grow longer than normal. It also affects ligament tissue, making it loose and more flexible. Ligaments act like strong ropes to hold your bones together and keep your joints stable.

People with Marfan syndrome may have any of the following skeletal characteristics:

  • Tall stature
  • Thin body
  • Long slender limbs (dolicho stenomelia)
  • Long fingers (arachnodactyly)
  • Breastbone curves in or sticks out (pectus)
  • Curvature of the spine (scoliosis)
  • Loose ligaments
  • High arched roof of the mouth and crowded teeth
  • Deep hip sockets (protusio acetabulae)
  • Low bone density (osteopenia)

Chest and Lungs

Children with Marfan syndrome often have chests that sink in (pectus excavatum) or stick out (pectus carinatum).

More severe cases of pectus excavatum can cause breathing difficulties. Treatment involves surgery to lift the sternum and realign the ribs. In children, this deformity can return after surgery, so surgery is delayed whenever possible.

Although pectus carinatum does not usually cause additional health complications, it may be a cosmetic problem for children and adolescents.

Spontaneous pneumothorax (sudden collapse of a lung without trauma) occurs more commonly in Marfan syndrome and is more likely to recur, as well.

Other Characteristics

An additional characteristic of Marfan syndrome is swelling of the membrane that surrounds the brain and spinal cord. This is called dural ectasia and many people with Marfan syndrome have it. Dural ectasia may cause low back and leg pain, abdominal pain, and headaches.

People with Marfan syndrome are also at a higher risk for breathing problems, such as shortness of breath. Breathing problems are often caused by deformities of the breastbone, as well as the spine. 


Because there is no cure, treatment for Marfan syndrome focuses on managing the symptoms and preventing complications. Children with more severe symptoms will naturally require more medical attention than children who have mild symptoms. In many cases, Marfan symptoms worsen as patients age.

Many types of medical specialists are involved in the treatment of Marfan syndrome. Depending on your child's symptoms, treatment may be provided by a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopaedic surgeon (bone doctor). In many cases, symptoms require the expertise of other medical specialists, as well.

The remainder of this article will discuss in more detail some of the complications that affect the skeletal system and specific treatment options.


Scoliosis is a sideways curve of the spine. Instead of a straight line down the middle of the back, a spine with scoliosis curves, sometimes looking like a letter "S" or "C."

In many cases, scoliosis curves are slight and do not require treatment. Children with more severe curves may need bracing or surgery.

Approximately 60% of children with Marfan syndrome have scoliosis. Most of the spinal curves associated with Marfan syndrome are small and do not require treatment.

normal spine and scoliosis curves

(Left) Normal spine anatomy. (Right) A spine that is curved due to scoliosis.

Bracing. If your child has a curve of 15° to 25° and is still growing, your doctor may recommend wearing a brace. Although bracing will not straighten scoliosis curves, it often prevents curves from getting worse. However, bracing has shown to be less successful in children with Marfan syndrome than in children with idiopathic (of unknown origin) scoliosis. This is especially the case in children with more serious curves (measuring 25° to 45°).

Spinal fusion. In adolescents with Marfan syndrome who have stopped growing, curves over 45° worsen at a faster rate than those with idiopathic scoliosis. Corrective surgery is typically recommended.

The operation for scoliosis is a spinal fusion. This is essentially a "welding" process. The basic idea is to realign and fuse together the curved vertebrae so that they heal into a single, solid bone. Implants made up of screws, rods, hooks, or wires will keep the bones in place while the fusion heals.

Watch: Spinal Fusion Procedure

x-rays of scoliosis and spinal fusion

(Left) This x-ray shows scoliosis curves that require surgery. (Right) The same patient after surgery to correct the curves.

Before surgery. Because children with Marfan syndrome also may have heart and lung problems, consultation and clearance from a cardiologist and pulmonologist are required before surgery to treat scoliosis.

A magnetic resonance imaging (MRI) scan of the spine will be used to check for dural ectasia.

Complications. The risk for surgical complications is higher in children with Marfan syndrome. Complications include blood loss, infection, and loosening of the implant due to weakened bone (osteopenia).

Children with Marfan syndrome are also at an increased risk for "adding on" in which new curves develop above or below the fusion. To prevent "adding on," all curves will be included in the spinal fusion.


People with Marfan syndrome are more prone to flatfoot because the ligaments that support the arch of the foot are loose. Foot pain is common but is usually relieved with simple treatments, such as shoe inserts. Soft-, firm-, or hard-molded arch supports often decrease foot pain and fatigue.

flat foot of patient with Marfan syndrome

X-ray shows the narrow, flat foot of a patient with Marfan syndrome.

Reproduced with permission from Fitzgerald RH Jr (ed): Orthopaedic Knowledge Update 2. Rosemont, IL. American Academy of Othopaedic Surgeons, 1987, pp. 9-17.

Protusio Acetabulae

A small number of Marfan syndrome patients have hip sockets that are deeper than normal. This is called protusio acetabulae. Although it does not cause any complications during childhood, protusio acetabulae can cause early onset of hip arthritis.

If the hip pain worsens and causes disability, surgery may be recommended.

Patients who are younger than 40 years old with hip pain but minimal arthritis may benefit from osteotomy. In an osteotomy, the head of the thighbone is cut and realigned to take pressure off of the hip joint.

Older Marfan syndrome patients may benefit from total hip replacement. In a total hip replacement, the severely damaged hip joint is removed and replaced with an artificial device.


Regular medical monitoring is essential for people with Marfan syndrome, especially testing for changes in heart and eye health.

Advances in medical care have made it possible for people with Marfan syndrome to live long, productive lives.

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Last Reviewed

April 2021

AAOS does not endorse any treatments, procedures, products, or physicians referenced herein. This information is provided as an educational service and is not intended to serve as medical advice. Anyone seeking specific orthopaedic advice or assistance should consult his or her orthopaedic surgeon, or locate one in your area through the AAOS Find an Orthopaedist program on this website.