Grow well. Play well.
SM
Marfan’s Syndrome
What is 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 to 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 to 30 degrees, application of a brace for moderate curvature of 30 to 40 degrees, and a posterior
spinal fusion with instrumentation for severe curves of greater than 50 degrees.
ortho-institute.org • Los Angeles: 213-741-8330 • Santa Monica: 424-259-6593
Grow well. Play well.
SM
Marfan’s Syndrome
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.
Flat Feet - 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.
ortho-institute.org • Los Angeles: 213-741-8330 • Santa Monica: 424-259-6593