Marfan syndrome

Marfan syndrome 

Marfan syndrome is a rare hereditary disorder of connective tissue which causes connective tissue to be weaker than normal.

For people with the Marfan syndrome, weak connective tissue causes problems of the skin, muscles, ligaments, heart, eyes, blood vessels, and bones.

It is estimated that about one in 10,000 people has the Marfan syndrome.

People affected by the Marfan syndrome are most often unusually tall and slender, with particularly long arms, legs, and fingers in comparison to the rest of their body.
Symptoms may not be apparent until adulthood.

The Marfan syndrome follows a pattern of inheritance called “autosomal dominant inheritance.” “Autosomal” means the inheritance is linked to any chromosome other than those which determine the sex of the child. “Dominant” means the effects of the Marfan gene dominate or override the effects of the normal gene in the pair. Therefore, if one parent contributes the Marfan gene and one parent contributes a normal gene, the child will inherit the Marfan disorder. There is a 50% chance during each pregnancy that the affected parent will pass on the Marfan gene and the child will get the Marfan syndrome. There is, of course, also a 50% chance that the affected parent will pass on his or her normal gene, in which case the child will not get the disorder.

Symptoms of the Marfan syndrome may include one or more of the following:

  • Excessive height
  • Particularly long arms and legs, with long slender fingers and toes.
  • Nearsightedness (myopia)
  • Indented or protruding breast bone
  • Curvature of the spine (scoliosis)
  • Mild to severe heart problems
  • Excessive Height

 Eye Problems

Nearsightedness (myopia) is a common condition. It can be corrected with prescription glasses or contact lenses. Many children experience problems with the lens of the eye (the focusing structure located just behind the pupil of the eye and held in place by ligaments). The lens can become torn from its supports and become “dislocated.” This can cause vision problems that are mild or severe enough to interfere with progress in school. In rare instances, the lens may need to be removed surgically.

On rare occasions, a child may suffer a detachment of the retina (the light sensitive tissue located at the back of the eye). This causes a sudden loss of vision and requires emergency surgery.

Problems with the Spine

A child with the Marfan syndrome tend to develop defective spine. Defect in the curvature of the spine (scoliosis) is common. Removable brace to stabilize the spine may be helpful. In some cases, if the curve worsens, in spite of bracing, surgery may be recommended.

Problems with The Breast Bone

Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs.

Heart Problems

Heart problems can occur because the Marfan syndrome may cause leakage of the mitral or aortic heart valves. These valves control the flow of blood through the heart. Defects of the mitral valve may cause shortness of breath, an irregular pulse, and undue tiredness. Defects of the aortic valve can lead to serious heart failure. In addition, the main artery in the body, the aorta, can become dangerously weakened and rupture.

Marfan syndrome does not affect intelligence, but that visual problems often interfere with progress in school and that may affect the child’s social and psychological adjustment