Objective To investigate the clinical features, diagnosis, gene detection, treatment and prognosis of Steel syndrome caused by the mutation of collagen type ⅩⅩⅦ α1 chain (COL27A1). Methods A case of Han adolescent Steel syndrome complicated with scoliosis in the Department of Orthopaedics, Changhai Hospital, Naval Medical University (Second Military Medical University) was reported. Altogether 13 related articles (54 cases of Steel syndrome) from Jan. 1993 to Oct. 2020 were retrieved by using "Steel syndrome" AND "COL27A1" as subject word in the PubMed database. Among them, 17 cases of Steel syndrome caused by COL27A1 mutation and confirmed by whole exome sequencing were included. The clinical features of the 18 patients with Steel syndrome caused by COL27A1 mutation were analyzed. Results In this case, in addition to common clinical manifestations such as developmental delay, carpal coalition, scoliosis, long oval-shaped face, prominent forehead, anteverted nares and other common clinical manifestations, the patient also had webbed neck and low hairline at the back of neck. Whole exome sequencing indicated that COL27A1 gene had two compound heterozygous mutations:p.Pro705Ser and p.Asn1723Ser, which originated from father and mother, respectively. The diagnosis of Steel syndrome with congenital scoliosis was confirmed by the results of all examinations and the whole exome sequencing. After the preoperative examination, the patient was treated with posterior threedimensional orthopaedic bone graft fusion and internal fixation (surgical segments T₃-L₁). The anteroposterior and lateral X-rays of the full spine of the patient were performed in the outpatient department at 3 months, 1 year and 2 years after the operation. The results showed satisfactory segmental fusion without complications such as fracture of screws and rods, junctional kyphosis and distal adding-on phenomenon. Among the 18 patients, there were nine males and nine females, with a diagnosis age of 0.17-14 years. Three were COL27A1 complex heterozygous mutations, including p.Pro705Ser and p.Asn1723Ser (one case), c.93del and c.3075del (one case), and p.Cys174Serfs*34 and p.Arg707* (one case); 15 were homozygous missense mutations, including p.Gly697Arg (11 cases), p.Gly802Glu (one case), p.Gly904Arg (one case), c.4261-1G>A (one case), and c.3556-2A>G (one case). The main clinical features (unknown in one patient) included scoliosis (17 cases), short stature (12 cases), long oval-shaped face (nine cases), prominent forehead (nine cases), developmental delay (five cases), hearing loss (five cases), etc. The imaging features of the 18 patients included hip dislocation (16 cases), radial head dislocation (11 cases), carpal coalition (nine cases), etc. Conclusion Steel syndrome caused by COL27A1 mutation is a rare autosomal recessive genetic disease. Its family history, clinical features and imaging examinations provide a preferential diagnosis, but the final diagnosis should be based on the result of gene sequencing. The treatment of this disease should be further researched to improve the prognosis.