Non-syndromic cleft palate (ns-CP) has a genetically heterogeneous aetiology. Numerous studies have suggested a crucial role of rare coding variants in characterizing the unrevealed component of genetic variation in ns-CP called the “missing heritability”. Therefore, this study aimed to detect low-frequency variants that are implicated in ns-CP aetiology in the Polish population. For this purpose, coding regions of 423 genes associated with orofacial cleft anomalies and/or involved with facial development were screened in 38 ns-CP patients using the next-generation sequencing technology. After multistage selection and prioritisation, eight novel and four known rare variants that may influence an individual’s risk of ns-CP were identified. Among detected alternations, seven were located in novel candidate genes for ns-CP, including COL17A1 (c.2435-1G>A), DLG1 (c.1586G>C, p.Glu562Asp), NHS (c.568G>C, p.Val190Leu—de novo variant), NOTCH2 (c.1997A>G, p.Tyr666Cys), TBX18 (c.647A>T, p.His225Leu), VAX1 (c.400G>A, p.Ala134Thr) and WNT5B (c.716G>T, p.Arg239Leu). The remaining risk variants were identified within genes previously linked to ns-CP, confirming their contribution to this anomaly. This list included ARHGAP29 (c.1706G>A, p.Arg569Gln), FLNB (c.3605A>G, Tyr1202Cys), IRF6 (224A>G, p.Asp75Gly—de novo variant), LRP6 (c.481C>A, p.Pro161Thr) and TP63 (c.353A>T, p.Asn118Ile). In summary, this study provides further insights into the genetic components contributing to ns-CP aetiology and identifies novel susceptibility genes for this craniofacial anomaly.

Eruption is a complex and dynamic process determined by both genetic and epigenetic factors. This process involves a number of changes in the tissues surrounding the tooth and in tooth morphology. The aim of this study was to analyze the eruption sequence of permanent canines and premolars on the basis of pantomographic images. The study material consisted of 300 digital pantomographic images of children in the developmental period. The study group consisted of 165 boys and 135 girls. Images of patients of Polish nationality, aged 6–10 years, without diagnosed systemic diseases and local disorders were used in the study. Results: The study has shown that the most common pattern of tooth eruption in the lateral zones is type A positioning of the lateral teeth, which is 4-5-3. This pattern is characteristic of both girls and boys. This pattern also occurs most frequently in the maxilla in both boys and girls. In the mandible, on the contrary, two patterns of lateral tooth eruption were predominant. In girls, types A and E/4-5-3 and 3-4-5/occurred in the mandible, while in boys, types A and C/4-5-3 and 5-4-3/were observed in the mandible. The process of tooth eruption is a recognized measure of a child’s physical development, and pantomographic images are an effective and common diagnostic tool.