Marfan Syndrome Diagnostic Criteria Checklist !free! Jun 2026

When the major symptoms above aren't all present, doctors use a point system to evaluate other body systems. A systemic score of 7 or higher is required for this portion of the criteria. The Systemic Score Checklist

In the presence of a family history, the diagnosis is confirmed if: Ectopia Lentis is present. The Systemic Score is ≥ 7.

Scoliosis or thoracolumbar kyphosis

The Revised Ghent uses these as criteria, not independent points:

The diagnosis is usually confirmed if a patient has of these cardinal features, regardless of other symptoms. If they only have one, the "Systemic Score" and genetic testing come into play. marfan syndrome diagnostic criteria checklist

This is a hallmark sign and, when paired with aortic enlargement, is often enough for a definitive diagnosis. 3. FBN1 Mutation

A confirmed mutation in the FBN1 gene that is known to cause Marfan syndrome provides strong evidence. However, not all FBN1 mutations result in Marfan syndrome, so this must be interpreted alongside physical symptoms. 4. Systemic Score (The Checklist) When the major symptoms above aren't all present,

If there is a of Marfan syndrome, diagnosis requires:

The breastbone sinks inward.

Total your points based on the presence of these physical features: