Marfan Syndrome Diagnostic Criteria Checklist May 2026

| Feature | Points | Details / Notes | | :--- | :---: | :--- | | | 3 | Both positive (Walker-Murdoch & Steinberg signs). | | Wrist OR thumb sign | 1 | Only one of the two is positive. | | Pectus carinatum (pigeon chest) | 2 | Chest protrudes outward. | | Pectus excavatum (funnel chest) | 1 | Chest is indented inward. | | Hindfoot deformity | 2 | Pes planus (flat feet) with heel valgus (tipping inward). | | Plain pes planus | 1 | Flat feet without heel deformity. | | Pneumothorax (spontaneous) | 2 | Collapsed lung without trauma (history of ≥1). | | Dural ectasia | 2 | Widening of spinal dura (seen on lumbar MRI or CT). | | Protrusio acetabuli | 2 | Hip socket bulging inward (on X-ray). | | Reduced upper segment / lower segment ratio | 1 | Arm span > height by >7.5cm in adults. | | Scoliosis or kyphosis | 1 | Spinal curvature (≥20° or surgical history). | | Elbow extension reduced | 1 | Unable to fully straighten elbow (<170°). | | Facial features (≥3 of 5) | 1 | Dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia. | | Skin striae (stretch marks) | 1 | Unexplained striae (not from weight gain/pregnancy). | | Myopia > 3 diopters | 1 | Severe nearsightedness. | | Mitral valve prolapse | 1 | Confirmed by echocardiogram. | Part 2: Major Diagnostic Criteria (for context) The Revised Ghent uses these as gateway criteria, not independent points: