Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

RPL13‐related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9‐year‐old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13‐related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg–Calve–Perthes‐like disease. This case expands the phenotype of RPL13‐related disorders.