Facial and intraoral microforms in Dominican families with a history of cleft lip and/or palate

Published: 13 September 2023| Version 1 | DOI: 10.17632/y679g7ffx6.1


The etiology of non-syndromic cleft lip and palate has been defined as polygenic and multifactorial; the genetic contribution may come from the mother, the father, or both, and may be expressed or manifested in them as distinct facial phenotypic characteristics or anatomical variants (1). These features are evidence of the presence of associated genetic factors (2). Sharma and Kharbanda (3) define microforms as the consequence of minimal expression of orofacial cleft genes, resulting in an underlying alteration in various tissues. The identification of orofacial cleft microforms should be directed mainly to the search for a distinctive phenotype, whose characteristics are clearly identifiable in individuals with different types of orofacial clefts and their families (4), as well as to relate the number and presence of microforms to the inheritance pattern of the families studied (5, 6), taking as an example the methodology used in the study conducted in 2018 by Ramirez and Joaquin (6), where the type of cleft was related to the inheritance pattern. Dixon et al. (7), in 2011, maintain that the knowledge of significant facial phenotypes can strengthen family studies and also contribute to the identification of those with a high risk of producing offspring with non-syndromic malformations. For the above described, it is of interest to characterize the microforms present in these families and to relate them to the diagnosis of the affected patients, as well as to determine the degree of consanguinity of the affected relatives and to relate them to the type and number of microforms found by means of a genealogical tree. In the Dominican Republic and in the same study population, studies of inheritance patterns have been carried out, these genetic studies are very expensive and are not available to all, until now microforms have not been studied, so it is necessary to observe them, as it has been evidenced in the literature previously exposed, these patients could present distinctive facial anatomical variants (4) that could be related to the type of cleft and to the inheritance pattern. The importance of this study is to provide data on the characteristics of these affected families and thus, with the help of both the literature and this and future studies, to determine a specific or distinctive phenotype for families affected by non-syndromic cleft lip and/or palate. Therefore, it is necessary to study the families with these characteristics in the Dominican population.



Universidad Nacional Pedro Henriquez Urena


Dominican Republic, Cleft Lip, Cleft Palate, Phenotypic Variation, Genealogy


Fondo Nacional de Innovación y Desarrollo Científico–Tecnológico

FONDOCyT No. 2018-19-2A5-236