What is Marfan Syndrome?

Marfan Syndrome
Marfan Syndrome. “Seven-signs” of Marfan syndrome may be used for targeted screening of Marfan syndrome in adults of the general population.Notes: The screening tool assigns four score points to ectopia lentis, two points to a family history of Marfan syndrome, and one point to previous thoracic aortic surgery, to pectus excavatum, to a wrist and thumb sign, to previous pneumothorax, and to skin striae. According to the total score, the pretest probability of Marfan syndrome may be assessed as low (≤1 point), moderate (>1–3.5 points), or high (>3.5 points).48. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN - The application of clinical genetics (2015). Not Altered. CC.

Marfan syndrome is a connective tissue disorder due to fibrillin-1 abnormalities.