Ghent Criteria Jun 2026
In short, the Ghent Criteria are the international "gold standard" for diagnosing Marfan syndrome (MFS). Because there is no single lab test that works for everyone (though genetic testing is crucial), doctors use these criteria to piece together the clinical puzzle.
While skeletal features can be subjective, lens dislocation is a binary, objective finding. It is present or it is not. This makes it a powerful diagnostic marker. ghent criteria
A total of are possible across various organ systems. A score of 7 or more is clinically significant. Wrist AND Thumb Sign Wrist OR Thumb Sign Pectus Carinatum (pigeon chest) Pectus Excavatum (sunken chest) or asymmetry Hindfoot Deformity (valgus) Dural Ectasia (widening of the dural sac) Protrusio Acetabuli (hip joint deformity) Pneumothorax (collapsed lung) Scoliosis or kyphosis Reduced Elbow Extension Facial Features (3 of 5 specific signs) Skin Striae (stretch marks) Myopia (>3 Diopters) Mitral Valve Prolapse Key Benefits of the Revision In short, the Ghent Criteria are the international
The further simplified the process by prioritizing two "cardinal" features: aortic root aneurysm/dissection and ectopia lentis (dislocation of the eye lens). This revision also gave greater weight to genetic testing for mutations in the FBN1 gene. The 7 Rules of Diagnosis (Revised 2010) It is present or it is not