| Marfan syndrome is an inherited disorder that has classic physical findings and can cause heart problems. It develops in 1 out of every 10,000 births and can be inherited as an autosomal dominant condition, meaning that 50% of the children of a person with Marfan syndrome will also be affected. It is also possible to develop it without a family history as a new mutation and this is found in 30% of cases.
Children with Marfan syndrome are usually very tall, with a long, thin face, arms and legs. They usually have an arm span that is greater than their height, and the lower part of their body is longer than the upper part. They may also have long, thin fingers that are hyperextensible and they are at an increased risk of scoliosis.
The major manifestations of Marfan syndrome involves the heart, where you can have dilation of the root of the aorta, mitral valve prolapse and aortic regurgitation.
Diagnosis is usually made based on the clinical findings, especially if there is a family history. An echocardiogram will usually be done to look for the complications that involve the heart.
Children with or suspected of having Marfan syndrome should usually be seen by a Pediatric cardiologist for diagnosis and management.
Marfan Syndrome Internet Resources:
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