The Facts

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What causes Marfan syndrome?

A defect in the protein called fibrillin-1 was discovered in 1991 to be responsible for the Marfan syndrome. This protein was traced to the suspected Marfan gene, confirming its location on the long arm of chromosome 15. This error in the gene weakens and lessens the strength and elasticity of the connective tissue found throughout the body.

Is Marfan syndrome a hereditary condition?

Usually the Marfan gene is inherited from a parent who is affected by Marfan syndrome. Marfan syndrome is an autosomal dominant disorder, meaning an affected person has a 50/50 chance of passing the Marfan gene on to their offspring. As many as one in four cases can arise with no known family history of the disease.

Marfan syndrome occurs in approximately 1 out of 5,000 people and affects both males and females of any race or ethnic group.

Marfan syndrome is present at birth, but may not be diagnosed until later in life as symptoms vary significantly in type and degree.
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Visual symptoms of Marfan syndrome

  • Nearsightedness
  • Lens dislocation
  • Retinal detachment
  • Early glaucoma or cataracts

Typical Physical Features of Marfans

  • Tall and lean with disproportionately long arms and legs
  • Thin, long fingers and toes (arachnodactyly)
  • Long, thin feet with very low or extra high arches
  • Long, narrow face
  • Narrow, highly arched palate and small jaw with crowded teeth
  • Scoliosis or kyphosis (curve in the spine)
  • Loose and flexible joints, prone to dislocation or stiff joints
  • Sunken or protruding chest
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Other potential symptoms of Marfan syndrome

  • Striae (stretch marks), appearing at a young age irrespective of weight fluctuation
  • Pneumothorax (spontaneous collapse of the lung)
  • Dural ectasia (enlargement of the dura), primarily in the lower spine which can wear down the vertebral column bones. It can also cause acute abdominal symptoms.

Expected lifespan of a person with Marfan syndrome

The expected lifespan of a person with Marfan syndrome is now comparable to the general population. This is due to improved awareness and early diagnosis, advances in medical management, medication and surgical techniques, as well as careful living.