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Marfan's Syndrome

Marfan’s syndrome is an inherited genetic disorder that can cause weakening of connective tissue in the body. Connective tissue is important because it provides shape and support to structures in the body. Marfan’s syndrome is present at birth, but may not be detected until later in life. The defective gene in Marfan’s syndrome is inherited; it is able to be passed down from parent to child with a 50 percent chance. Marfan’s syndrome affects 1 in 10,000–20,000 people.

What are signs and symptoms?

There are several characteristic traits that can indicate Marfan’s syndrome, but vary greatly among people. They may include the following:

  • Tall, slender, long arms, legs, fingers, and toes
  • Arm span greater then height
  • Long, narrow face
  • Flexible joints and loose ligaments
  • Abnormally curving spine (scoliosis)
  • Breastbone that protrudes in or out
  • Eye problems, nearsightedness or a dislocated lens
  • Heart murmur that causes backflow of blood
  • Crowded teeth
  • Flat feet
  • Low bone density (osteopenia)
  • Decreased flexibility in lung air sacs
  • Dural ectasia, the weakening of the connective tissue of the dural sac, a membrane that encases the spinal cord

Why is Marfan's syndrome a concern?

The most prominent concern with Marfan’s syndrome is that the main artery that supplies oxygen-rich blood to the body (the aorta) can become enlarged, stretch, and weakened. This can lead to an “aortic dissection," where the aorta tears, releases blood, or an aneurysm, which is a bulge in the weakened artery. These are very serious and life-threatening complications that require immediate surgery.

What are the Orthopaedic Concerns?

Scoliosis
This is a curvature of the spine greater than 10 degrees. Diagnosis is made with radiographs of the spine to evaluate the amount of curving. Treatments include observation if there is mild curvature of less than 20–30 degrees, application of a brace for moderate curvature of 30–40 degrees, and a posterior spinal fusion with instrumentation for severe curves of greater than 50 degrees.

Hip Dysplasia
This is when the ball at the top of the thighbone is not stable within the hip socket and the ligaments of the hip joint may also be stretched and loose. Diagnosis is made based on ultrasounds for infants, radiographs and possible CT for older children. Treatment depends on age. For infants, a pavlik harness can be applied to help improve the contact between the thigh and hip bones. It allows contact between the thigh and hip bones and helps strengthen the muscles and ligaments of the hip while it is developing. The older child may need a hip spica cast and possibly surgery to correct the position of the hip bone in the joint.

Flatfeet
Noted when the arch of the foot disappears upon standing. The arch reappears while your child stands on their tip toes or the toes are hyperextended. Typically, flatfeet do not cause any pain or discomfort. This condition also does not cause any disabilities or limitations in activities he or she would like to participate in.

Knock Knees
Knock knees is an angular deformity of the legs in which the knees touch each other but the ankles are spread apart. This is also known as “genu valgum.” Typically during childhood, especially during early grade school, knock knees is a normal part of growth and is called “physiologic genu valgum.”

Will my child be okay?

There is currently no cure for Marfan’s syndrome but many of the associated symptoms can be managed and treated. Early diagnosis and identification can allow doctors to prevent or delay complications that accompany Marfan’s syndrome. With appropriate treatment early on, children with Marfan’s syndrome may have improved longevity (similar to the life expectancy of an average individual) and quality of life.