Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is a connective tissue disorder presenting with short stature, small hands and feet, cardiac valvular disease, hepatomegaly, joint contractures, and thickened skin (Rosser, Wilkinson, Hurst, McGaughran, & Donnai, 1995; Spranger, Gilbert, Tuffli, Rossiter, & Opitz, 1971; Vanace, Friedman, & Wagner, 1960). Here, FBN1 is linked to geleophysic dysplasia.