The (revised in 2010) are the international clinical standard for diagnosing Marfan syndrome (MFS) , a genetic connective tissue disorder. Core Diagnostic Pillars
The Systemic Score acts as a tie-breaker. It assigns points to various features: ghent criteria
The Ghent Criteria are not meant to be a DIY quiz at home. If you score a "6" on the systemic score, you don't have Marfan syndrome. If you have long fingers but a normal heart and eyes, you likely just have "Marfanoid habitus" (tall stature) without the syndrome. The (revised in 2010) are the international clinical
The Revised Ghent Criteria elevated the importance of the FBN1 gene test. However, here is the catch: You can have a FBN1 mutation without having Marfan syndrome (a condition called "MASS phenotype"). Conversely, in very rare cases, the genetic test comes back negative, but the patient clearly has MFS clinically. If you score a "6" on the systemic
The Ghent Criteria operate as a flowchart, requiring a combination of the major signs and genetic testing: