Marfan Syndrome
Marfan syndrome is a genetic disorder that causes connective tissue in your child’s body to be weaker than normal.
It often affects the heart, eyes, blood vessels and skeleton. Marfan syndrome is present at birth, but may not be detected until later in life.
Marfan syndrome can cause the main artery that supplies oxygen-rich blood to the body (the aorta) to become enlarged, stretched and weakened. If this happens, it can lead to an “aortic dissection,” where the aorta tears, releases blood or causes an aneurysm (bulge) to occur. These are serious complications that require immediate surgery.
Causes
Marfan syndrome is a genetic disease, which means a child is born with it. The defective gene is inherited.
Symptoms
Symptoms related to Marfan syndrome vary greatly. Examples include:
Tall, slender body with long arms, legs, fingers and toes
Arm span greater than 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
Crowded teeth
Flat feet
Diagnosis
To determine if your child has Marfan syndrome, your specialized doctor will closely monitor your child for symptoms that should be treated. The condition is extremely hard to detect in children because most symptoms aren’t noticeable until a child reaches their teenage years or young adulthood. Early diagnosis and identification can allow doctors to prevent or delay complications that accompany Marfan’s syndrome.
Children’s with Marfan syndrome are at risk for developing other orthopedic conditions such as:
Treatment
There is currently no cure for Marfan’s syndrome but many of the associated symptoms can be managed and treated. 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.
Possible non-surgical treatments our doctors may offer or recommend to treat your child include:
Prescription medications
Physical therapy
Steroid injections