Marfan Syndrome
marfan; syndrome; connective; tissue; spine; joint; tall; cardiovascular; system; eye; inherited; family; genetic; teeth; marfans; marfan's ;
Contents
What is Marfan Syndrome?
Marfan Syndrome is an uncommon inherited health condition that can affect both men and women, and can occur in any ethnic group.
Marfan Syndrome affects many parts of the body, including the:
- skeleton - the spine may be curved, joints loose and the person is often tall compared to other family members. The hands and feet are usually long and thin.
- heart and blood vessels - most people with Marfan Syndrome have problems with the heart - eg with valves of the heart, the aorta (main blood vessel from the heart) which can be dilated, and with the rhythm of the heart.
- eyes - people with Marfan syndrome are often short sighted (myopic), and the lens of the eye may move out of its normal position (dislocation).
- face (the face is often long and thin with crowding of the teeth).
Marfan Syndrome does not affect a person's ability to think and learn.
- While many people will have family members with the same syndrome, about 15-30% are the first person with the syndrome in their family.
- The condition can be passed from a parent who has it to a child. It is an autosomal dominant condition, which means that if one parent has the condition there is about a 50% chance that a child inherit the condition.
There is no test for Marfan Syndrome. The diagnosis is made by carefully checking many parts of the body (including heart and eyes), and checking the family history.
There is no cure, but many of the problems can be treated if they arise.
Further information
The information on this site should not be used as an alternative to professional care. If you have a particular problem, see a doctor, or ring the Parent Helpline on 1300 364 100 (local call cost from anywhere in South Australia).
This topic may use 'he' and 'she' in turn - please change to suit your
child's sex.