Marfan syndrome - symptoms and causes

Marfan syndrome is a genetic disorder affecting cognitive tissue. Marfan syndrome affects may organs such as the heart, eyes, blood vessels and skeleton.

Typically, people with Marfan syndrome are tall and thin with long limbs, including fingers.

The symptoms and complications of Marfan syndrome vary from person to person.

Symptoms

The symptoms and presentation of Marfan syndrome vary from person to person, the syndrome affects many areas of the body.

Symptoms of Marfan syndrome may include:

• Tall and slender build

• A high arched pallet

• Long flat feet

• Chest abnormalities, such as a breastbone which protrudes outwards or dips inwards

• Heart murmurs

• Spine abnormalities

• Long limbs, legs and fingers

• Extreme myopia (nearsightedness)

  
  

  

What causes Marfan syndrome?

Marfan syndrome is caused by a defect in the gene which enables our bodies to produce a protein responsible for making connective tissue strong and durable.

Marfan syndrome is typically inherited from a parent with the syndrome. Children of people with Marfan syndrome have a 50% change of inheriting the defective gene. Less commonly, Marfan syndrome occurs in someone without the abnormal gene being passed down from a parent, the mutation can develop spontaneously.

Risk factors for Marfan syndrome

Marfan syndrome does not effect a specific a gender or race more than others. Marfan syndrome is a genetic condition, therefore the greatest risk factor is having a parent with the syndrome.