Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related, (SEMD-RPL13, MIM#618728), is a recently identified form that was first reported by Isidor et al. in 20135 after observing two affected children with normal birth length and early onset postnatal growth deficiency, severe short stature and genu varum. Here, RPL13 is linked to spondyloepimetaphyseal dysplasia.