It is typically associated with mutations in the TGFBR1 or TGFBR2 genes. Marfan Syndrome is characterized by aortic root dilation, ectopia lentis, and skeletal abnormalities like arachnodactyly, with FBN1 gene mutations commonly identified. This evidence concerns the gene TGFBR1 and congenital contractural arachnodactyly.