Marfans Syndrome and Related Disorders

Marfan syndrome is a genetic disorder of the connective tissues which affects many of the organ systems throughout the body. Including but not limited to the:

  • skeleton
  • heart
  • eyes
  • lungs
  • blood vessels
  • nervous system

The condition occurs in approximately 1 out of 3,000 people and affects both males and females of any race or ethnic group.

The expression of Marfan syndrome is very variable and may be mild or quite severe.  Characteristic features may also differ from one diagnosed individual to the next.  There are several specific features that must be present to confirm a diagnosis of Marfans Syndrome.

Symptoms of the Marfan syndrome include:

  • Family history
  • Enlarged Aorta, Mitral  valve prolapse
  • Visual problems – nearsightedness (myopia) or dislocation of the ocular lens
  • Usually tall lean stature with disproportionately long arms and legs
  • Excessively long thin fingers – arachnodactyl (spiderlike)
  • Long narrow facial features
  • Narrow, highly arched palate and proportionally small jaw
  • Scoliosis (sideways curve of the spine)
  • Extremely loose and flexible joints often prone to dislocation
  • Sunken or protruding chest
  • Pneumothorax (spontaneious collapse of the lung)
  • Dural ectasia (enlargement of the dura), primarily in the lower portion of the spine which can wear down the bones of the vertebral column
  • Straie (stretch marks) often appearing at a young age irrespective of weight fluctuation

For more information on Marfans Syndrome or related disorders including Loey-Dietz syndromes, please visit:
Marfans Association Victoria.

Information on this webpage is credited to and obtained from the Marfans Association Victoria. Last Updated 10th September 2014.


FollowFollow