Marfan Syndrome
What is Marfan Syndrome?
Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. People with Marfan syndrome may have unusual physical features, such as tall and slim build, long and thin fingers, disproportionately long arms and legs, a curved spine (scoliosis), crowded teeth, a high arched palate, and flat feet. They are also particularly susceptible to eye problems, especially near-sightedness (myopia). In rare cases, Marfan syndrome can also cause serious heart and blood vessel (cardiovascular) complications.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a mutation in the gene that tells the body how to make fibrillin-1, a protein found in connective tissue. This gene mutation can be passed down from an affected parent to their child or it can appear randomly in a person with no family history of the syndrome. Most cases of Marfan syndrome are inherited.
What Are the Symptoms of Marfan Syndrome?
The most common symptoms of Marfan syndrome include:
- Tall and thin build
- Long and thin fingers (arachnodactyly)
- Proportionally long arms, legs, and torso
- Curved spine (scoliosis)
- Crowded teeth
- High arched palate
- Flat feet
- Eye problems, including near-sightedness (myopia)
- Cardiovascular complications (in some cases)
How Is Marfan Syndrome Diagnosed and Treated?
A doctor may diagnose Marfan syndrome based on a patient’s family history and physical characteristics. A genetic test is available to confirm a diagnosis, but is not necessary for every case. Treatment for Marfan syndrome typically involves regular monitoring and treatment of any health problems that arise as a result of the syndrome. Medications may be prescribed to help control cardiovascular problems, and physical and occupational therapy may help with any skeletal and motor-skill issues.