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Etiology, prenatal diagnosis, obstetrical management, and recurrence of orofacial clefts

Louise Wilkins-Haug, MD, PhD
Section Editors
Deborah Levine, MD
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Vanessa A Barss, MD, FACOG


The most common craniofacial malformation identified in the newborn is the orofacial cleft, which consists of cleft lip with or without cleft palate (CL/P) or isolated cleft palate (CP) [1]. They can occur as part of a syndrome involving multiple other organs or as an isolated malformation. Most studies suggest that about 70 percent of cases of CL/P and 50 percent of CP are nonsyndromic [2]. Although both congenital anomalies result in malformation of the midface, CL/P and CP differ with respect to embryology, etiology, candidate genes, associated abnormalities, and recurrence risk.


The reported prevalence of orofacial clefts varies by country, method of ascertainment, and classification. In the United States, the National Birth Defects Prevention Network for 2007 to 2011 reported the estimated prevalence of orofacial clefts (CL alone, CP alone, and CL with CP) was 14.5/10,000 live births (1 in 690 births): the prevalence of CL alone was 3.1/10,000 live births, the prevalence of CL with CP was 5.6 per 10,000 live births, and the prevalence of CP alone was 5.9 per 10,000 live births [3]. Thus, among newborns with a CL, approximately one-third had CL alone and two-thirds had CL with CP.

Race/ethnicity also affects the prevalence of orofacial clefts. Prevalence was lowest in American blacks (10.2/10,000 live births), highest in American Indian or Alaska Natives (20.5/10,000 live births), and at an intermediate level in other groups (whites, Hispanics, Asians, Pacific Islander) [3]. The First Nations population of British Columbia, Canada, has the highest reported birth prevalence of orofacial clefts in the world, nearly 30/10,000 births [4].

In contrast, the prevalence of isolated CP appears to be constant across races and ethnicities. CP likely has a different etiology than CL, and environmental and genetic factors (discussed below) likely affect risk of development of CL more than development of CP.

Sex also affects prevalence. The prevalence of CL alone and CL with CP is higher in males than females, but the prevalence of CP alone is higher in females than males [3].

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Literature review current through: Nov 2017. | This topic last updated: Feb 22, 2017.
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