HOW DO YOU ACQUIRE MARFAN SYNDROME?
It is an inherited disorder caused by a defect in the gene that determines the structure of fibrillin.
Fibrillin is the primary component of microfibrils, which allow tissues to stretch without weakening.
If fibrillin is abnormal, connective tissues are looser than normal, which weakens the support structures of the entire body.
Marfan Syndrome has variable expression, meaning not all cases and characteristics are the same or have the same extent of severity.
The child of a person with Marfan Syndrome has a 50% chance of inheriting the disease.
About 25% of cases are due to spontaneous mutation of the gene upon conception (not inherited).
HOW IS IT DIAGNOSED?
There is no specific test for Marfan Syndrome.
Diagnosis is based on examinations of...
CAN IT BE PREVENTED?
Marfan Syndrome cannot be prevented, however, it can be predicted in some cases. The child of a person with Marfan Syndrome has a 50% chance of inheriting the disease.
