Proteins encoded by SRY-related Box (SOX) genes have emerged as a pivotal family of transcription factors, orchestrating diverse processes critical to human organ development. Abnormalities in these SOX genes are linked to varieties of rare disorders, termed SOXopathies. Musculoskeletal malformation is a featured phenotypes shared by those SOXopathies; among those musculoskeletal malformations, scoliosis is one of the high-incidence phenotypes in patients with SOXopathies.