Whereas the precise biological function of RSPRY1 remains unknown, biallelic RSPRY1 mutations are known to be linked to spondyloepimetaphyseal dysplasia Faden-Alkuraya type (SEMDFA, OMIM #616723), a progressive genetic skeletal disorder characterized by vertebral defects, mild scoliosis, epiphyseal and metaphyseal abnormalities, short stature, facial dysmorphism, short fourth metatarsals, intellectual disability, and in some cases craniosynostosis [4,5,6]. The gene discussed is RSPRY1; the disease is progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome.