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Defining Subphenotypes for Oral Clefts Based on Dental Development

¹ Department of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, 614 Salk Hall, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA;
² Department of Biological Sciences, School of Dentistry, University of São Paulo, Bauru, SP, and Bolsista CAPES/BEX, Brasília, Brazil; and
³ Department of Cellular and Molecular Biology, Biology Institute, Fluminense Federal University, Niterói, RJ, Brazil

^* corresponding author, arv11{at}dental.pitt.edu

Individuals with clefts present considerably more dental anomalies than do individuals without clefts. We used dental development to subphenotype clefts with the goal of identifying cleft subgroups that could have specific genetic contributions. We examined 1000 individuals, 500 with clefts and 500 without. We used several clinical features, such as cleft completeness or incompleteness, laterality, and the presence of dental anomalies to assess each individual’s cleft status. We performed chi-square and Fisher’s exact tests to compare the frequencies of observed anomalies between individuals with and individuals without clefts, and among individuals with different cleft subphenotypes. Agenesis of the lateral incisor on the non-cleft side was the most remarkable observation, and may suggest that such cases could be considered incomplete forms of bilateral clefts of the lip.

KEY WORDS: oral clefts • subphenotype • dental anomalies • agenesis • cleft palate • cleft lip

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