One should also consider other differentials: Spondylo-enchondroplasia with immune dysregulation (SPENCDI, APC5 gene, recessive inheritance, which features autoimmune disorders, neurological sequalae and intellectual deficit) and genochondromatosis (gene unknown, AD, whereby enchondromas present throughout the body especially over the clavicles and knees [107]. The gene discussed is ANAPC5; the disease is Spondyloenchondrodysplasia with immune dysregulation.