Marfan Syndrome Causes Myopia, Loose Joint Laxity, Long Thin Arms and Legs

Marfan syndrome is an inherited connective tissue disorder. Essentially, you’re born with a fibrillin protein gene mutation.

Fibrillin is involved in building threadlike filaments called microfibrils. Microfibrils supply strength, flexibility and elasticity to connective tissue. Also, they distribute growth factor molecules that control tissue and organ growth and repair.

Fibrillin gene mutation affects both the quality of microfibrils and the availability of growth factors.  In turn, this is what causes the myopia, loose joints or long thin arms and legs distinguishing features of Marfan syndrome.

If you have Marfan’s syndrome, then you’ll likely be tall and slender, with some or all of these physical traits:

  • flat feet
  • scoliosis
  • hypotonia
  • long thin face
  • loose joints ~ laxity
  • arched palate & crowded teeth
  • extreme myopia ~ nearsighted
  • breastbone that protrudes in or out
  • disproportionately long arms, legs, fingers, toes

But it’s what you don’t see that is the most serious aspect of Marfan syndrome.

Many with Marfan have heart and blood vessel problems, such as:

Cardiovascular malformations are serious symptoms.  But because Marfan syndrome symptoms vary greatly, you may only experience its mild effects, like causes of myopia, joint laxity or long arms and legs.

Because Marfan syndrome can affect almost any part of your body, it causes a myriad of possible complications or an increased risk for:

Marfan syndrome’s treatment targets these various potential health dilemmas.

There is no cure for Marfan syndrome, but there are treatments available that have pushed life expectancy up from 30 to a ripe old age.

And depending on your risk for complications, your health care professional may recommend that you not participate in certain types of sports and recreational activities.

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