One novel COL11A1 variation (c.C5095G p. L1699V) and one novel GLI3 variation (c.A4721G p.K1574R) was identified in the fifth proband with cranial dysplasia, clavicle hypoplasia and supernumerary teeth, which were the main features of cleidocranial dysplasia [22, 23]. The gene discussed is COL11A1; the disease is cleidocranial dysplasia 1.