Marfan Syndrome Calculator Jun 2026
If you have a family member with a confirmed diagnosis:
| Clinical Feature | Points | | :--- | :--- | | (positive for both) | 3 | | Wrist OR Thumb sign (positive for one) | 1 | | Pectus carinatum (chest protrudes) | 2 | | Pectus excavatum (chest is sunken) | 1 | | Hindfoot deformity (flat feet or cavus foot) | 2 | | Pneumothorax (collapsed lung) history | 2 | | Dural ectasia (swelling of spinal nerve roots, via MRI) | 2 | | Protrusio acetabuli (hip socket deformity) | 2 | | Reduced upper/lower segment ratio (long legs) | 1 | | Scoliosis (spinal curve) or thoracic lordosis | 1 | | Reduced elbow extension (<170°) | 1 | | Facial features (3 of 5: dolichocephaly, eye slant, malar hypoplasia, retrognathia, enophthalmos) | 1 | | Skin striae (stretch marks not from weight change) | 1 | | High myopia (nearsightedness > -3 diopters) | 1 | | Mitral valve prolapse (on echo) | 1 | marfan syndrome calculator
A 28-year-old male presents with:
The systemic score is a weighted point system that evaluates various physical traits. A is considered a "positive" systemic score and is a major component in a definitive diagnosis. Core Criteria and Points If you have a family member with a
Older calculators relied heavily on height-to-arm span ratios. Modern guidelines (2010 revision onwards) prioritize the aortic root Z-score . You cannot self-diagnose Marfan syndrome with a tape measure alone; you need an echocardiogram. The calculator provides a final score, which indicates
The MSC calculates a score based on the presence or absence of specific clinical features, with weights assigned to each feature based on its sensitivity and specificity for Marfan syndrome. The calculator provides a final score, which indicates the likelihood of Marfan syndrome, ranging from 0 (low) to 10 (high).
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