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Marfan syndrome

How is it diagnosed?

Marfan syndrome is diagnosed when classical signs of weakness in at least two systems (heart, eyes, skeleton) are found. Diagnosis is made on the basis of family history, physical examination including slit lamp examination for possible dislocated lens, and echocardiogram. Linkage to the gene on chromosome 15 may be studied if affected family members in two generations are available.

View What are the causes? What are the causes?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated July 2002 by Dr M Briggs, Occupational Health Physician, Hove, UK.

 

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