In the present study, we utilized targeted high-throughput DNA sequencing or Sanger sequencing (single-gene testing) techniques to analyze genetic variants in seven CDD children, and found seven different variants in RUNX2 gene, including four novel variants (c.722_725delTGTT, p.Leu241Serfs*8; c.231_232delTG, Ala78Glyfs*82; c.909C > G, p.Tyr303*; c.668G > T, p.Gly223Val) and three reported variants (c.577C > T, p.Arg193*; c.574G > A, p.Gly192Arg; c.673 C > T, p.Arg225Trp) [27–29], which were all located in the transactivation region (Fig. 2). The gene discussed is RUNX2; the disease is craniodiaphyseal dysplasia.