学因网基因：RUNX2；
与RUNX2基因相关的CHPO中文疾病症状表型：呼吸窘迫,眼距过宽,小下颌畸形,中度身材矮小,前囟持续不闭合,耻骨骨化延迟,新生儿呼吸窘迫,第5指中节指骨发育不全或不发育,耻骨联合增宽,扁平颧突,牙釉质发育不全,颈肋,脊椎前移,手指骨锥形骨骺,骨折易感性增加,额窦缺如,股骨颈短,腭裂,髋内翻,骨密度增加,副鼻窦缺如,顶骨隆起,大枕骨大孔,乳牙萌出延迟,脊髓空洞症,缝间骨,面中部后缩,常染色体显性遗传,脊柱侧弯,第二掌骨过长,短锁骨,短肋,肩胛骨发育不全,颅骨过厚,牙齿数量增加,听力障碍,恒牙萌出延迟,锁骨发育不全,额窦发育不全,第2指中节短指骨,峡部裂,短指畸形综合征,腭高而窄,髂骨翼发育不全,前额突出,鼻梁凹陷,窄胸,对侧肩膀异常运动（双肩的对称性异常）,脊柱后凸畸形（驼背）；
与RUNX2基因相关的HPO英文疾病症状表型：Respiratory distress,Hypertelorism,Micrognathia,Moderately short stature,Persistent open anterior fontanelle,Delayed pubic bone ossification,Neonatal respiratory distress,Short middle phalanx of the 5th finger,Wide pubic symphysis,Malar flattening,Hypoplasia of dental enamel,Cervical ribs,Spondylolisthesis,Cone-shaped epiphyses of the phalanges of the hand,Increased susceptibility to fractures,Absent frontal sinuses,Short femoral neck,Cleft palate,Coxa vara,Increased bone mineral density,Absent paranasal sinuses,Parietal bossing,Large foramen magnum,Delayed eruption of primary teeth,Syringomyelia,Wormian bones,Midface retrusion,Autosomal dominant inheritance,Scoliosis,Long second metacarpal,Short clavicles,Short ribs,Hypoplastic scapulae,Thickened calvaria,Increased number of teeth,Hearing impairment,Delayed eruption of permanent teeth,Aplastic clavicle,Hypoplastic frontal sinuses,Short middle phalanx of the 2nd finger,Spondylolysis,Brachydactyly,High, narrow palate,Hypoplastic iliac wing,Frontal bossing,Depressed nasal bridge,Narrow chest,Abnormal facility in opposing the shoulders,Kyphosis；
HPO相关编号:HP:0002098,HP:0000316,HP:0000347,HP:0008848,HP:0004474,HP:0008788,HP:0002643,HP:0004220,HP:0003183,HP:0000272,HP:0006297,HP:0000891,HP:0003302,HP:0010230,HP:0002659,HP:0002688,HP:0100864,HP:0000175,HP:0002812,HP:0011001,HP:0002689,HP:0000242,HP:0002700,HP:0000680,HP:0003396,HP:0002645,HP:0011800,HP:0000006,HP:0002650,HP:0006040,HP:0000894,HP:0000773,HP:0000882,HP:0002684,HP:0011069,HP:0000365,HP:0000696,HP:0006660,HP:0002738,HP:0009577,HP:0003304,HP:0001156,HP:0002705,HP:0002866,HP:0002007,HP:0005280,HP:0000774,HP:0005259,HP:0002808；
相关病症数据库编号：OMIM:119600；
相关病症中文名：颅骨锁骨发育不全症；
相关病症英文名：CLEIDOCRANIAL DYSPLASIA; CCD；
*遗传方式：AD；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因RUNX2往往会有以下的表型：呼吸窘迫,眼距过宽,小下颌畸形,中度身材矮小,前囟持续不闭合,耻骨骨化延迟,新生儿呼吸窘迫,第5指中节指骨发育不全或不发育,耻骨联合增宽,扁平颧突,牙釉质发育不全,颈肋,脊椎前移,手指骨锥形骨骺,骨折易感性增加,额窦缺如,股骨颈短,腭裂,髋内翻,骨密度增加,副鼻窦缺如,顶骨隆起,大枕骨大孔,乳牙萌出延迟,脊髓空洞症,缝间骨,面中部后缩,常染色体显性遗传,脊柱侧弯,第二掌骨过长,短锁骨,短肋,肩胛骨发育不全,颅骨过厚,牙齿数量增加,听力障碍,恒牙萌出延迟,锁骨发育不全,额窦发育不全,第2指中节短指骨,峡部裂,短指畸形综合征,腭高而窄,髂骨翼发育不全,前额突出,鼻梁凹陷,窄胸,对侧肩膀异常运动（双肩的对称性异常）,脊柱后凸畸形（驼背）。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该颅骨锁骨发育不全症进行致病基因RUNX2的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
