Marfan syndrome is a disorder of the body's connective tissues a group of tissuesthat maintain the structure of the body and support internal organs and other tissues.

Children usually inherit the disorder from one of their parents.

Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.

Typical characteristics of Marfan syndrome include:

  • being tall
  • abnormally long and slender limbs, fingers, and toes (arachnodactyly, see photo)
  • heart defects
  • lens dislocation wherethe lensof the eye falls into an abnormal position

The syndrome is autosomal dominant, which means a child can inherit it even if only one parent has the syndrome.

There's therefore a one intwo (50%) chance that the child of a parent with Marfan syndrome will inherit the syndrome.

The gene defect leads to abnormal production of a protein called fibrillin, resultingin parts of the body being able to stretch abnormally when placed under any kind of stress.

The defective fibrillin gene also causes some bones to grow longer than they should. This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.

In the remaining quarter (25%) of cases, neither parent has the syndrome. In these cases, the fibrillin gene changes (mutates) for the first time in the parent's egg or sperm. The mutated gene can be passed on to the child, who will then go on to develop the syndrome.

You'll be closely monitored, and any complications will be treated if they occur.

One of the most serious problems caused by Marfan syndrome occur if the heart and the aorta, the body's main artery, are significantly affected. This can lead to a lower life expectancy.

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

Content supplied by the NHS Website

Medically Reviewed by a doctor on 28 Nov 2016