RYR1 and spondyloepimetaphyseal dysplasia: Indeed, mutations in RPL13, have been identified in patients with Spondyloepimetaphyseal dysplasia, a disorder characterized by short stature, scoliosis and kyphosis, hip dislocation, equinovarus foot (club foot) and other orthopaedic joint conditions (Le Caignec et al., 2019), with a large part of these symptoms being shared by patients carrying recessive RYR1 mutations.