CHST3 and spondyloepiphyseal dysplasia: Homozygous mutations in CHST3 cause spondyloepiphyseal dysplasia with congenital joint dislocations, which is characterized by a short stature, severe kyphoscoliosis, mild brachydactyly, arthritic joints, joint dislocation, rhizomelia, fusion of the carpal bones, metacarpal shortening, osteoarthritis of the elbow, deafness, and ventricular septal, mitral, and/or tricuspid defects (Table 2; Rajab et al., 2004; Thiele et al., 2004; van Roij et al., 2008; Tuysuz et al., 2009; Tanteles et al., 2013; Muys et al., 2016; Waryah et al., 2016; Srivastava et al., 2017).