RFLNA and spondylocarpotarsal synostosis syndrome: For instance, frameshift variants in RFLNA have been linked to spondylocarpotarsal synostosis syndrome, a skeletal disorder characterized by short stature and carpal/tarsal synostosis.[34] The involvement of FOXO1 in embryonic development, bone growth and remodeling, and cartilage repair processes underscores its essential function in skeletal development.[35] Another signal was identified near the KIF2B gene, which belongs to the KIF family involved in nervous system development and early embryo.