Mutations in the fibrillin-1 (FBN1) gene are associated with a range of phenotypes, such as Marfan syndrome (MFS); Marfan lipodystrophy syndrome; mitral valve prolapse, aortic dilatation, skeletal and skin findings, short-sightedness syndrome; stiff skin syndrome; acromicric dysplasia (AMD); geleophysic dysplasia type 2 (GLD); Weill-Marchesani syndrome (WMS) type 2; and familial ectopia lentis syndrome. This evidence concerns the gene FBN1 and geleophysic dysplasia 2.