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In 1996, this changed with the "Ghent Nosology," a classification system revised in 2010 to become the modern "Ghent Criteria." This diagnostic protocol transformed Marfan syndrome from a vague clinical suspicion into a definable, genetic entity. By placing the aorta and the lens at the center of the diagnostic puzzle, the Ghent Criteria saved lives through earlier, more accurate detection.
Before the Ghent revisions, a diagnosis could be made based largely on skeletal features. A tall, thin patient with long fingers (arachnodactyly) and a sunken chest might have been labeled as having Marfan syndrome based purely on their "habitus" (physical appearance). ghent criteria
The revised criteria prioritize two "cardinal" features. If both are present, a diagnosis is confirmed regardless of other factors. Measured by a "Z-score" ≥2is greater than or equal to 2 Ectopia Lentis: Dislocation of the lens in the eye. 2010 Revised Ghent Nosology In 1996, this changed with the "Ghent Nosology,"
If a parent has Marfan syndrome, their child has a 50% chance of inheriting it. In these cases, the diagnosis is easier: A tall, thin patient with long fingers (arachnodactyly)
