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. This evidence concerns the gene RPL13 and spondyloepimetaphyseal dysplasia, matrilin-3 type.