Marfan Syndrome

Signs of Marfan syndrome

As mentioned above, Marfan Syndrome is a genetic disorder. An alteration (mutation) of the Fibrillin-1 (FBN-1) gene causes a defect in the microfibrils (structural component of connective tissue) and weakening of the elastic fibers, which manifests itself mainly in the organ systems of the heart, skeleton, eye and vessels. Autosomal dominant inheritance means that an … Signs of Marfan syndrome

Marfan syndrome diagnostics

The diagnosis of Marfan’s syndrome is an interdisciplinary process involving cooperation between cardiologists, radiologists, ophthalmologists, human geneticists and general practitioners, who together strive for an early diagnosis. Today, the so-called gene nosology of 1996 is in use. Main criteria (a main criterion is given if at least four of the following manifestations are detected): Pigeon … Marfan syndrome diagnostics