What is Marfan syndrome today?
Marfan syndrome (MFS, OMIM 154700) is an autosomal dominant connective tissue disorder that has an estimated incidence of 1/5000 with probably over 25% of sporadic cases. The syndrome involves many systems (skeletal, ocular, cardiovascular, pulmonary, skin and integument, and dura) but its more prominent manifestations are skeletal, ocular and cardiovascular. In 1986, an international group of experts agreed upon diagnostic criteria to distinguish classic Marfan syndrome from many related disorders. These criteria constitute what is currently referred to as the ‘Berlin nosology’.2 Patients are diagnosed based on involvement of the skeletal system and two other systems with at least one major manifestation (ectopia lentis, aortic dilation/dissection, or dural ectasia). Patients with an affected first degree relative are required to have involvement of at least two other systems with one major manifestation preferred but not required. This nosology has been found wanting in many individu
