Abstract: Cleidocranial dysplasia（CCD）is an infrequent autosomal dominant disorder which is associated with developmental anomaly of the skeleton and the teeth，such as delayed closure of the cranial sutures，clavicle hypoplasia，supernumerary teeth，deciduous tooth retention，etc. It is a kind of serious and complex disease that requires intervention. CCD is caused by mutations in the Runt-related transcription factor 2（RUNX2）. In this review，we made a summary of clinical manifestations，pathogenetic mechanisms and genetics，diagnosis，treatment and prevention of CCD.

Key words: cleidocranial dysplasia, CCD；anomaly of the teeth；anomaly of the skeleton

摘要： 颅骨锁骨发育不全（cleidocranial dysplasia，CCD）是一种罕见的常染色体显性遗传病，表现为骨骼和牙齿的发育异常，如颅骨骨缝延迟闭合、锁骨发育不全或再生障碍、多生牙、乳牙滞留等，临床症状明显，需要临床医生早期干预治疗且治疗过程相对复杂。CCD的发生与Runt相关转录因子2（Runt-related transcription factor 2，RUNX2）的突变有关。文章就CCD的临床表现、病因与遗传学、诊断、治疗以及预防做一概述。

关键词: 颅骨锁骨发育不全, 牙齿异常, 骨骼异常