MFS is caused by mutations in the FBN1 (fibrillin-1) [MIM: 134797] gene and is clinically characterized by a pleiotropy of skeletal (e.g., overgrowth), cardiovascular (e.g., TAAD and mitral valve prolapse), ocular (e.g., ectopia lentis) and skin abnormalities (e.g., striae). Here, FBN1 is linked to isolated ectopia lentis.