This is an inherited disorder that affects the connective tissue- the fibers that support and anchor your organs and other structures in one's body. People with Marfan syndrome are usually thin and tall with disproportionately long legs, arms, fingers and toes. Marfan syndrome affects the heart, eyes, blood vessels and skeleton. Marfan syndrome is caused by a defect in the gene that enables one's body to produce a protein that helps give connective tissue its elasticity and strength.
The signs and symptoms of Marfan syndrome vary greatly, they include:
• Flat feet
• Extreme nearsightedness
• Heart murmurs
• An abnormally curved spine
• A high, arched palate and crowded teeth
• A breastbone that protrudes outward or dips inward
• Disproportionately long legs, fingers, arms and toes
• Learning disability
The complications associated with Marfan syndrome include:
• Vision problems
• Heart failure
• Aortic regurgitation
• Aortic rupture
• Bacterial endocarditis
• Scoliosis
• Heart failure
• Mitral valve prolapse
There is no specific laboratory test such as a skin biopsy or blood test to diagnose Marfan syndrome. The doctor or geneticist relies on observation and a complete medical history and examination. If you think that you or your child may have Marfan syndrome, talk to your doctor at the earliest.
