Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. There can be many ongoing health issues and for some, it may require complex open-heart surgery.
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:
What causes Marfan syndrome?
Marfan syndrome is hereditary, which means it can be passed to a child from a parent who's affected.
In around three-quarters (75%) of cases, Marfan syndrome is inherited from 1 parent.
The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.
There's therefore a 1 in 2 (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, resulting in 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.
