Symptoms

What Are the Symptoms of Marfan Syndrome?

Signs and symptoms can vary greatly from person to person, and although present at birth, some patients aren't diagnosed until adolescence or young adulthood.

Physical appearance/skeletal

  • Tall, slender body
  • Narrow face, deep-set eyes, receding chin, down-slanted eyes, high-arched palate with crowded teeth
  • Arm span length is greater than height
  • Long, slender fingers and toes (arachnodactyly)
  • Flat feet (pes planus), with the arch of the foot flattened
  • Protruding breastbone (pectus carinatum) or indented breastbone (pectus excavatum)
  • Positive wrist sign (ability of the thumb and fifth finger to overlap appreciably when the wrist is gripped with the opposite hand)
  • Positive thumb sign (thumb placed in palm and the thumb extends beyond the palm)
  • Scoliosis (a side-to-side curvature of the spine greater than 20 degrees)
  • Spondylolisthesis (vertebrae slip forward and distort the spinal cord)
  • Reduced upper-to-lower segment ratio (length of the torso shorter than the length of the legs)

Cardiovascular complications

Cardiovascular complications are the most serious potential complication of Marfan syndrome. They include:

  • Aorta: Walls of the aorta are weakened, potentially causing an aneurysm, a dissection or a rupture of the aorta.
  • Aortic root: The beginning of the aorta can enlarge, dissect or rupture, affecting the aortic valve and the coronary arteries and potentially causing further complications.
  • Mitral valve prolapse: The mitral valve bulges slightly back into the left atrium when it closes, allowing a small amount of blood to leak backward, which can lead to heart failure.

Symptoms of an aortic or aortic root dissection include chest pain, shortness of breath, stroke and leg pain. Aortic dissections are surgical emergencies and patients should immediately go to the emergency department if experiencing these symptoms.

Nervous system

  • Dural ectasia: Swelling of the dura, a membrane that covers the spinal cord and brain, causing back problems and headaches

Eyes

  • Ectopia lentis: The lens in one or both eyes is cloudy due to the ligaments' inability to hold the lens in place.
  • Myopia: Severe nearsightedness inhibits the ability to see distant objects and can cause retinal tears.
  • Retinal tear or detachment: The retina, which sends visual images to the brain through the optic nerve, is pulled away from its normal position in the back of the eye.

Pulmonary

  • Spontaneous pneumothorax: The lung ruptures and collapses due to its inability to remain elastic during normal pressure changes associated with breathing.

Skin

  • Abdominal hernia: Part of the intestines bulge through a weak part of the abdominal wall due to the inability of the abdominal wall to stay elastic.
  • Stretch marks: Striae appear due to the inability of skin to stay elastic, not as a result of pregnancy or weight gain.