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Question

Please may I have some information about Marfan's syndrome?

Answer

Marfan's syndrome is an inherited disorder of connective tissue, resulting in problems with the eyes, skeleton and heart. It is transmitted as an autosomal dominant disorder. This means that the defective gene is dominant, and will be inherited by 50% of the children (of either sex) of a person with the disease.

Severity is extremely variable. People with this disease are usually taller than average for age and family history. Their arm span is greater than their height.

Their fingers are disproportionately long and thin. Deformity of the sternum (breast bone) is common, either outwards, or inwards.

People with Marfan's syndrome generally have hyperflexible joints - commonly known as double-jointed. Their knees may bend backwards, and they often have flat feet, and curvature of the spine.

They are usually thin, with little subcutaneous fat.

They are often very short-sighted, and are prone to detachment of the retina. They suffer with problems with the lens of the eye.

Heart problems are associated with thinning of the wall of the aorta, the main blood vessel serving the body. The aortic valve may also be damaged.

This syndrome is recognised by the combination of all the different problems in the body, particularly if someone else in the family has the disease. Diagnosis can be difficult if the person has few major features, and cases of partial Marfan's syndrome are common.

Diagnosis before birth is not yet possible, and the person and his/her family should have genetic counselling.

The long-term outcome depends on the severity of the disease. There is no treatment specific to Marfan's syndrome.

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