Expert consensus on classification and diagnosis of congenital orofacial cleft

doi:10.7518/hxkq.2025.2024306

West China Journal of Stomatology ›› 2025, Vol. 43 ›› Issue (1): 1-14.doi: 10.7518/hxkq.2025.2024306

Expert consensus on classification and diagnosis of congenital orofacial cleft

Li Chenghao¹(), An Yang², Duan Xiaohong³, Guo Yingkun⁴, Liu Shanling⁵, Luo Hong⁶, Ma Duan⁷, Ren Yunyun⁸, Wang Xudong⁹, Wu Xiaoshan¹⁰, Xie Hongning¹¹, Zhu Hongping¹², Zhu Jun¹³, Shi Bing¹

^1.State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
^2.Dept. of Plastic Surgery, Peking University Third Hospital, Beijing 100191, China
^3.Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, Air Force Medical University, Xi’an 710032, China
^4.Dept. of Radiology, West China Second University Hospital, Sichuan University, Chengdu 610041, China
^5.Dept. of Medical Genetics/Dept. of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, Chengdu 610041, China
^6.Dept. of Ultrasonography/Dept. of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, Chengdu 610041, China
^7.Lab of Birth Defects Research, Fudan University, Shanghai 200438, China
^8.Dept. of Ultrasonics, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200090, China
^9.Dept. of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai 200011, China
^10.Dept. of Oral and Maxillofacial Surgery, Xiangya Hospital of Central South University, Changsha 410008, China
^11.Dept. of Medical Ultrasonics, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
^12.Dept. of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100081, China
^13.National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu 610041, China

Received:2024-08-20 Revised:2024-09-14 Online:2025-02-01 Published:2025-01-22
Contact: Li Chenghao E-mail:leechenghao@scu.edu.cn
Supported by:
Central Government-Guided Local Science and Technology Development Project of Sichuan Provincial Science and Technology Department(2023ZYD0111);Key Research and Development Project of Sichuan Provincial Science and Technology Department(2023YFS0245)

Abstract

Abstract:

Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines. Results serve as a crucial resource for families to navigate prenatal screening results or make informed decisions regarding treatment options while also contributing significantly to preventing serious birth defects within the development of population.

Key words: congenital orofacial cleft, classification, diagnosis and therapy

CLC Number:

R782.2

Li Chenghao, An Yang, Duan Xiaohong, Guo Yingkun, Liu Shanling, Luo Hong, Ma Duan, Ren Yunyun, Wang Xudong, Wu Xiaoshan, Xie Hongning, Zhu Hongping, Zhu Jun, Shi Bing. Expert consensus on classification and diagnosis of congenital orofacial cleft[J]. West China Journal of Stomatology, 2025, 43(1): 1-14.

Figures/Tables 2

Tab 1

Syndromic congenital orofacial cleft without intellectual disability

综合征	患病率	主要致病基因或相关染色体	临床表征	严重程度	参考文献
Van der Woude综合征	1/30 000~1/10 000	IRF6、GRHL3	唇腭裂，先天性下唇部凹陷或瘘管，牙齿发育不全，并且患者家属中也可同时出现唇腭裂及下唇凹陷等特征	中度	[3-5]
Stickler综合征	1/10 000	Ⅰ型：COL2A1；Ⅱ型：COL11A1；Ⅲ型：COL11A2；Ⅳ型：COL9A1；Ⅴ型：COL9A2；Ⅵ型：COL9A3	1）眼部疾病：高度近视和视网膜脱离；2）听力损害：听觉丧失和频繁的耳内感染；3）颅面异常：腭裂、小鼻、小颌畸形；4）骨骼肌异常：关节炎和关节松弛、脊柱侧弯、脊椎滑脱、骨骺滑脱或Legg-Perthes样疾病	中度	[6-7]
Pierre Robin序列征	1/20 000~1/8 500	SOX9、KCNJ2	常伴发腭裂，腭裂发生率约为90%，多为不完全性腭裂，并且多数伴有不同程度的喂养困难、营养不良、呼吸困难，甚至睡眠窒息	中度	[8-10]
Treacher Collins综合征	1/50 000	TCOF1、POLR1D、POLR1C和POLR1B	1）睑裂下斜、眼睑缺损、面骨发育不全（尤其是下颌骨和颧骨复合体）、外耳和中耳畸形、腭裂和巨口等，形成特征性的“鱼面样”面容；2）后鼻孔闭锁、舌后坠、传导性耳聋	中度	[11-12]
Marshall综合征	不详	COLL11A1	1）可能伴有Pierre Robin序列征；2）鼻发育不全，面中分发育不足，近视以及通常为进展性的感觉神经性或混合性听力丧失	中度	[13-14]
先天性缺指/趾-外胚层发育不良-唇/腭裂综合征	1/90 000	TP63	1）84%的病例先天性缺指（趾）、并指（趾）或手足裂；2）68%的病例伴发唇腭裂；3）具有典型外胚层缺损面容；4）其他系统：毛发发育异常，牙齿发育异常，涎腺发育不全，涎液少，汗腺发育不全	中度	[15-17]
Apert综合征	1/65 000	FGFR2	1）可伴有腭裂；2）颅缝早闭，面部不对称、尖头、短头、面中部发育不良；3）眼部特征，包括下斜睑裂、眼距过长、斜视、眼球突出等；4）并指（趾）	重度	[18-19]
Andersen-Tawil综合征	1/100 000	60%~70%与KCNJ2基因突变相关，但仍有30%遗传机制不明，部分报道与KCNJ5基因突变相关	三联征：1）反复发作的周期性麻痹；2）有症状的心律失常或心电图；3）典型发育畸形，如宽眼距、腭裂、小下颌、低耳廓、第5指（趾）弯曲畸形、第2、3趾（指）并趾畸形、身材矮小和脊柱侧凸等	重度	[20-22]
Burn-McKeown综合征	不详	TXNL4A	1）颌面部畸形，包括鼻梁突出、睑裂下斜、眶距过宽、下眼睑缺损、耳朵大且突出、唇腭裂、小下颌、人中短；2）后鼻孔闭锁；3）传导性耳聋；4）可伴有先天性心脏病、多囊性肾发育不良、肛门闭锁（不常见）	中度	[23-25]
Catel-Manzke综合征	不详	TGDS	1）Pierre Robin序列征表现；2）其他颌面部发育畸形：睑裂过短、高弓形眉毛，耳部发育畸形、低位耳，高腭穹、唇裂；3）生长发育迟缓；4）四肢骨骼畸形；5）有可能伴有心血管畸形；6）胸腹部畸形	中度	[26-28]
Branchio-oculo-facial综合征	不详	TFAP2A	1）颈部鳃裂皮肤缺损；2）眼部畸形；3）特征性面部表现：宽鼻梁、额前突、耳畸形以及内耳畸形、唇腭裂等；4）异位胸腺/肾脏畸形/全身多毛症；5）1级亲属为该征患者	中度	[29-31]
睑缘粘连-外胚层发育不良-唇/腭裂	已报道的仅50例，具体患病率不详	P63	1）唇腭裂；2）睑缘粘连（70%）；3）外胚层发育不良：常表现为皮肤糜烂；4）四肢畸形、尿道下裂、牙关紧闭症、听力障碍、发育迟缓	重度	[32-34]
Rapp-Hodgkin综合征	不详	TP63	1）典型的颅面异常：泪管发育不良、外耳道狭小或闭锁、唇腭裂、头发卷曲稀疏；2）新生儿期尚可发生干皮症、指尖皮纹消失、掌纹变平，少汗，但对热能耐；3）男孩有尿道下裂；4）光滑舌，先天性无舌系带及舌下肉阜；5）牙齿数目减少、畸形牙、牙釉质发育不良、患龋倾向等	中度	[35-38]
Miller综合征	约1/1 000 000	DHODH	1）颧骨发育不全、小颌畸形；2）唇腭裂；3）后鼻孔闭锁，视神经盘缺损，低位、向后旋转的杯状耳朵，睑裂下斜；4）四肢异常	中度	[39-41]
羊膜破裂序列征	7.8/10 000	尚不清楚，但产前超声检查可有效诊断	1）四肢畸形：四肢截肢，淋巴水肿，并指（趾）异常皮肤隆起，畸形足；2）颅脑畸形：非对称性脑膨出，无脑畸形，颅骨缺如；3）颌面部畸形（包括唇腭裂）；4）胸腔畸形；5）脊柱畸形；6）腹壁部位：腹裂，膀胱外翻	重度	[42-43]
Diamond-Blackfan综合征	1.5/1 000 000~5.0/1 000 000	RPS19最常见；RPL35A、RPL5、RPL11、RPS24、RPS17、RPS7、RPS10、RPS26也有报道	1）骨髓衰竭；2）先天发育异常：主要涉及头部、上肢、心脏和泌尿生殖系统（包括唇腭裂）；3）癌症易感性增加	重度	[44-45]
多发性骨骺发育不良	1/20 000	显性遗传：COMP、COL9A1、COL9A2、COL9A3、MATN3；隐性遗传：DTDST、SLC26A2、CANT1	1）常染色体显性存在于儿童早期，通常在运动后臀部或膝盖疼痛；2）常染色体隐性一般出现在青春期晚期或成年早期，特征是关节疼痛，手、脚、膝盖畸形和脊柱侧凸；3）50%的患者至少有一个异常特征，如马蹄足、腭裂、手指或脚趾弯曲变形等	中度	[46-47]
脊椎骨骺先天性发育不良	1/100 000	COL2A1	1）Pierre-Robin序列征很常见；2）X线片显示椎体呈卵圆形，伴骨骺骨化延迟；3）患者继发气道问题和肺发育不全，生命早期死亡率增高	重度	[48-49]
Beckwith-Wiedemann综合征	1/13 700	LIT1、H19、CDKN1C	1）临床表现为巨舌，脐膨出，躯体偏侧肥大致不对称生长，耳叶状皱褶，臀部螺旋状凹陷；2）Pierre Robin序列征常见；3）新生儿低血糖症；4）可能有罹患恶性肿瘤的风险，预后不良	重度	[50-51]
躯干发育异常	不详	SOX9	1）通常伴发Pierre Robin序列征，受累个体表现为出生前后的生长不足伴骨成熟迟缓和巨头畸形；2）四肢：胫骨前端弓形突出伴突出区域的皮肤凹陷；3）支气管软骨发育不良，呼吸困难；4）75%染色体为男性的病例出现性别倒错	重度	[52-53]
下颌骨颜面发育不全伴小头畸形综合征	不详	EFTUD2	1）特征为进行性小头症，面中部和颧部发育不全，小颌畸形，小耳畸形，耳道闭锁，听力损失，智力障碍和言语延迟；2）Pierre Robin序列征表现很常见；3）少数可有气道闭锁、食管闭锁、心脏缺陷	中度	[54-55]
Nager综合征	已报道的不到200例	SF3B4	1）桡侧四肢短缩畸形和下颌骨-面骨发育不全；2）Pierre Robin序列征常见；3）耳畸形、四肢畸形	中度	[56-57]
耳-腭-指综合征1型	发病率<1/100 000	FLNA	1）身材短小和轻度的精神迟缓；2）颅面特征：包括额部和枕部突出，眶距过宽，面骨发育不全，Pierre Robin序列征常见；3）骨骼畸形；4）神经性听力丧失	重度	[58-59]
重睑-淋巴水肿综合征	不详	MFH1、FOXC2	1）淋巴水肿，最初为下肢受累；2）角膜刺激、复发性结膜炎、畏光常见；3）少数伴有腭裂、脊椎和心脏缺陷	中度	[60-61]

Tab 1

Tab 2

Syndromic congenital orofacial cleft with intellectual disability

综合征	患病率	主要致病基因或相关染色体	临床表征	严重程度	参考文献
CHARGE综合征	1/10 000-1/15 000	CHD7	1）眼畸形；2）心脏畸形；3）后鼻孔闭锁；4）生长发育迟滞和/或中枢神经系统障碍；5）生殖器发育不全；6）耳畸形及听力障碍	重度	[62-63]
腭心面综合征	1/4 000	TBX1	1）精神、行为及认知能力障碍；2）面容：眼睛较小，眼距较大，眶下区扁平，睑裂较窄，鼻梁较挺、长脸等；3）先天性心脏病；4）其他系统：胸腺及甲状旁腺发育不良，腭咽部发育异常	重度	[64-66]
Goldenhar综合征	1/7 000-1/3 500	某些染色体异常，如5号染色体短臂缺失、7号染色体三体嵌合、18号染色体长臂缺失、环形21号染色体等	1）颌骨发育不良；2）面裂或腭裂；3）身高矮，精神运动发育迟缓，语言障碍等；4）心理社交问题，自闭症等	重度	[67-69]
Rubinstein-Taybi综合征	1/12 500	CREBBP、EP300	1）智力障碍；2）生长发育迟缓；3）多系统畸形：①肢体畸形，具有宽而扁的大拇指/脚趾、指/趾蹼；②特殊面容：高眉弓、长睫毛、眼睛异常、鹰钩鼻、上颌骨发育不全、高腭弓、腭裂、上唇短、异样笑容等；③多系统发育异常：胼胝体发育不全、大枕骨大孔等	重度	[70-72]
歌舞伎综合征	1/32 000	主要为MLL2，少数为KDM6A	1）轻、中度智力发育迟缓；2）特殊的面部：下眼睑外翻，弓形眉毛伴外侧三分之一稀疏或分散，鼻尖凹陷，耳朵突出，常伴有小下颌、腭盖高拱、腭裂等；3）其他系统：骨骼异常（92%），皮纹异常（93%）	中度	[73-75]
Gorlin综合征	1/57 000~1/164 000	PTCH1	1）发育异常：包括过度生长，智力低下，神经管闭合不全，骨异常（如分叉肋、多指畸形、颅内钙化、手足红色小凹陷）等；2）唇裂伴或不伴腭裂；3）对某些肿瘤易感	中至重度	[76-78]
Mowat-wilson综合征	1/70 000~1/50 000	ZEB2	1）中重度智力缺陷；2）颅面口部畸形（97%）：包括小头畸形、眼距过宽、杯状耳、腭裂等；3）泌尿生殖系统异常；4）先天性心脏缺陷；5）癫痫	重度	[79-80]
Crouzon综合征	不详	FGFR2	1）颅缝早闭，短头畸形；2）中面部发育不良（含有腭裂）；3）眼距过宽，眼球突出；4）脑积水、智力低下	重度	[81-82]
Cornelia de Lange综合征	1/50 000	常染色体显性遗传：NIPBL、RAD21、SMC3；X连锁遗传模式：HDAC8、SMC1A	1）腭部高拱，腭裂；2）中枢神经系统症状，严重智力障碍，癫痫；3）生长迟滞，多毛症；4）心脏畸形；5）肢体缺损；6）其他系统：泌尿道异常，胃肠系统疾病等	重度	[83-84]
Joubert综合征	1/100 000-1/80 000	常染色体隐性遗传：Ahi1、Cc2d2a、Cep290、Cplane1、Cspp1、Inpp5e、Kiaa0586、Mks1、Nphp1、Rpgrip1l、Tmem67、Tmem216；X连锁遗传：Ofd1	1）神经病理学改变，小脑蚓部发育不全；2）发育迟缓，智力发育落后；3）其他系统：唇腭裂，肌张力减退，异常呼吸，异常眼运动	重度	[85-87]
Cerebro-costo-mandibular综合征	报道75例，发病率难以估计	SNRPB	1）神经系统异常，智力低下；2）生长迟缓；3）翼状胬肉和中枢神经系统发育障碍；4）其他系统：腭裂，听力损失，气管软骨异常，肘部和锁骨发育不全，脊柱侧弯等。	重度	[88-90]
Wolf-Hirschhorn综合征	1/50 000~1/20 000	4号染色体短臂末端p16.3缺失	1）生长发育障碍，智力低下；2）癫痫；3）希腊勇士头盔面容，伴有唇腭裂；4）其他系统畸形障碍，包括骨骼异常、先天性心脏缺陷、听力丧失、泌尿系统畸形和脑结构异常等	重度	[91-93]
Opitz G/BBB综合征	1）X染色体上的基因突变：男性偏多，发病率1/50 000~1/10 000；2）常染色体显性遗传模式：发病率1/4 000	1）X染色体上的MID1基因突变；2）常染色体显性遗传模式：22号染色体上很大一部分区域的基因突变	1）面部畸形：最常见，包括眼距过宽、前额突出、唇腭裂等；2）喉气管食管畸形：常致吞咽和呼吸困难，甚至死亡；3）大部分男性患者存在泌尿生殖系统畸形；4）部分存在生长发育迟缓，行动、学习、语言障碍；5）自闭症	重度	[94-96]
Meckel-Gruber综合征	1/140 000~1/13 250	17q21~17q24染色体上基因突变	1）唇腭裂；2）囊性肾发育不良；3）枕部脑膨出或其他中枢神经系统异常；4）多指（趾）畸形	重度	[97-99]
Au-Kline综合征	报道26例	HNRNPK	1）发育迟缓，智力障碍，肌张力减低；2）与歌舞伎综合征相似，部分伴有颅缝早闭、高腭、腭裂，部分双眼凸出或出现蹼颈；3）宽大的第一脚趾及脚趾排列拥挤，第五指斜指、指关节突出，或伴有多趾/指畸形；4）部分出现先天性心脏异常、结缔组织及骨骼异常、泌尿系统异常	重度	[100-102]
Opitz-Kaveggia综合征	不详	MED12	1）生长发育迟缓，身材矮小，智力低下，惊厥，胼胝体发育不良，先天性肌张力低下，运动能力差；2）头大（与身体不成比例），前额高宽，额发上卷，唇腭裂，内眦侧向移位，鼻根高，耳小，关节挛缩，肛门闭锁；3）部分患者的母亲（携带者）有前额宽、额发上卷、肛门错位；4）先天性心脏畸形	重度	[103-105]
Neu-Laxova综合征	不详	PHGDH、PSAT1、PSPH	1）唇腭裂或腭盖高拱，凸眼，眼睑缺如，大口畸形，囟门关闭，眼距过宽，鼻梁凹陷，双耳下垂；2）胎儿生长发育迟缓，且呈对称性，妊娠中期可通过超声检查确诊；3）皮肤鱼鳞病；4）中枢神经系统发育障碍：多表现为程度严重的小头畸形和典型的前额倾斜	重度	[106-108]
Larsen综合征	约1/100 000	FLNB	1）面中分扁平呈盘状，前额部呈结节状突出，眼距增宽，睑裂上斜，鼻梁低平呈马鞍状，唇腭裂；2）指过短；远节指骨过宽，拇指过宽等；3）附腕骨；4）少数伴有骨骺形态异常，心血管系统异常，颈椎异常，传导性听力损害等	重度	[109-111]
Juberg-Hayward综合征	不详	ESCO2	1）小头畸形，唇腭裂，拱形眉弓，眶距过宽，鼻桥宽而平；2）低出生体重，身材矮小；3）肘关节受限/脱位，径向发育不全，脚趾并趾；4）广泛的骨骼疾病	重度	[112-114]
Roberts综合征	不详	ESCO2	1）唇腭裂，潜在的出生前即已开始的颅面特征生长不足，眶距过宽，面中分毛细血管型血管瘤，眼眶浅，蓝色巩膜，稀疏、银白色头发；2）肢体缺损：包括无四肢，短四肢，肱骨、桡骨、尺骨、股骨、胫骨和/或腓骨短缩缺损，上肢通常受累较严重；3）少数出现颅内缺损，可伴脑疝和脑积水	重度	[115-117]
Richieri-Costa-Pereira综合征	不详	EIF4A3	1）下颌中线处生长和融合异常导致的下颌骨发育不足、下牙槽嵴裂、下前牙缺失等，以及小口畸形、耳部畸形；2）Pierre-Robin序列征；3）喉部畸形；4）肢体形态异常；5）超过50%有学习障碍和语言迟缓	中至重度	[118-119]
Patau综合征	1/4 000~1/10 000	13号染色体三体异常	1）最具特征性的畸形表现包括不同程度的前脑无裂畸形，小眼畸形，头皮缺损，心脏缺陷以及多趾畸形；2）60%~80%伴发唇腭裂；3）脐膨出、多囊肾；4）生长迟缓和严重的认知障碍	重度	[120-121]
Edward综合征	1/6 000，女性多见	18号染色体三体异常	1）出生前生长迟缓，枕部突出伴眶上嵴发育不全，小鼻和小口，唇腭裂，胸骨短；2）先天性屈曲指伴指甲发育不全，明显的低弓形皮纹，短而背屈的拇趾；3）严重的精神障碍	重度	[122-123]
Waardenburg症候群	1/42 000	Ⅰ型、Ⅲ型：Pax3；Ⅱ型：Mitf；Ⅳ型：Ednrp、Edn3、Sox10	临床表现包括：1）虹膜异色症，双眼或一眼为蓝色巩膜，也有部分颜色正常；2）单耳或双耳听力障碍，发生率为9%~38%；3）额前一缕白发或易有少年白；4）内眦外移，两眼眼距较宽，但瞳孔间距正常；5）鼻根宽阔且鼻翼发育不良；6）并眉；7）下颌颏部较大、较宽；8）长期便秘，甚至同时罹患先天性巨结肠症；9）少数有皮肤脱色斑、先天性心脏病或肌肉、骨骼异常等症状。4种亚型中，Ⅰ型患者为典型的瓦氏症，具有上述1~6的特征，25%有耳聋；Ⅱ型患者具有Ⅰ型相似症状（除了内眦外移），50%有耳聋；Ⅲ型患者有肢体短缩缺陷，面容改变与Ⅰ型一致，有些还有小头症及重度智障；Ⅳ型患者面容改变与Ⅱ型一致，同时伴有先天性巨结肠	中至重度	[124-125]
Fryns综合征	0.7/100 000	尚不清楚，依靠产前影像检查诊断	1）面容特征粗犷，伴宽鼻梁，短鼻，大口和小颌畸形，唇腭裂；2）指、内外生殖器发育不良或畸形；3）50%有中枢神经系统严重畸形，包括Dandy-Walker畸形、无嗅脑畸形和胼胝体发育不全；4）胃肠道系统畸形，肺发育不良，膈肌缺损或膈疝等	重度	[126-127]
脆性X染色体综合征	男性1/1 200~1/2 500，女性1/1 650~1/5 000	FMR1	1）智力低下，语言障碍，行为障碍；2）容貌改变：腭裂或腭隐裂，窄脸，面中部发育差，前额突出，下颌前突，耳部特殊改变（如大耳、耳外翻、招风耳、单耳轮等）；3）生殖系统：睾丸增大；4）其他：20%有癫痫发作，少数患者有二尖瓣脱垂、升主动脉扩张	重度	[128-129]
Smith-Lemli-Opitz综合征	不详	DHCR7	1）出生前后生长不足，中重度精神障碍；2）特征性的畸形模式，包括上睑下垂，宽鼻尖，鼻孔前倾，心脏畸形、第2、3脚趾并趾畸形；3）腭裂；4）内脏畸形	重度	[130-131]

Tab 2

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Expert consensus on classification and diagnosis of congenital orofacial cleft

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