Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

Abstract

Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention).

Risk factors for orofacial clefts in India: A case–control study

“…A family history of OFC is a strong risk factor for nonsyndromic OFCs as shown in previous studies (Acuna-Gonzalez et al, 2011;Rahimov et al, 2012;Burg et al, 2016). In our study, the strength of association was as high as 15 but with very wide CIs.…”

“…There were no disaggregated data on the type of OFC; literature suggests that determinants (both environmental and genetic etiologies) of OFC vary with the type (Bianchi et al, ; Burg et al, ). Combining cleft lip and palate together may have attenuated the strength of association that we would have otherwise obtained.…”

Maternal‐related factors in the origin of isolated cleft palate—A population‐based case‐control study

“…Isolated cleft palate (cleft palate only, CPO) is the rarest form of oral clefting affecting 1‐25 per 10 000 newborns worldwide . There is increasing evidence for the different pathogenetic backgrounds of CPO and cleft lip with or without cleft palate (CL ± CP).…”

Prevalence and Incidence of Orofacial Cleft Anomalies in Children with Cleft Lip and Palate Associated with Etiological Deformities in Hail Region, Saudi Arabia

“…These incidence rates were within the relatively average rates, since the reported incidence rates for isolated cleft palate (rare type) were ranging from 0.13 to 2.53 per 1000 live births. The incidence rates of orofacial cleft varies substantially by geography with the lowest rates in Africa and the highest rates in British, Columbia and Canada [22].…”