Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (MIM 245600) is an autosomal recessive disorder caused by mutations in the B3GAT3 gene.  B3GAT3 codes for galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 and it catalyzes an initial step in the synthesis of glycosaminoglycan side chains of proteoglycans. In addition to multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects patients with B3GAT3 mutations may also have elbow contractures, hyperextensible large joints, scoliosis, osteoporosis, chest asymmetry and clubfoot. The main cardiovascular findings include mitral valve prolapse, septal defects, bicuspid aortic valve, aortic root dilatation, and left ventricular hypertrophy.

Differential diagnosis includes Larsen syndrome (LRS; MIM 150250) and spondyloepiphyseal dysplasia with congenital joint dislocations (MIM 143095).