A heritable disorder of fibrous connective tissue, Marfan syndrome (https://omim.org/entry/154700) shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems–skeletal, ocular, and cardiovascular (McKusick, 1972Pyeritz and McKusick, 1979Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570).

Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995)Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.