Background and Objectives: irregularities in the growth and development of the jawbones can lead to misalignments of maxillary and mandibular structures, a complex condition known as skeletal malocclusion, one of the most common oral health problems. Skeletal malocclusions, particularly Class II and Class III, can significantly affect facial appearance, chewing efficiency, speech, and overall oral health, often requiring orthodontic treatment or surgery to correct. These dentofacial anomalies are influenced by genetic and environmental factors and exhibit diverse phenotypic expressions. Materials and Methods: in this study, we investigated the correlation between the rs7351083 SNP of the FBN3 gene that encodes a member of the fibrillin protein family and malocclusion risk in a group of 57 patients from Romania. Results: the results shed light on the relationship between the selected genetic marker and the investigated dentofacial disorder, revealing a positive association between the reference allele (A) and Class II and that the alternate allele (G) is associated with Class III. Conclusions: cephalometric analysis revealed no significant differences among genotypes, suggesting that while genetic factors are implicated in malocclusion, they may not directly affect cephalometric parameters or that the sample size was too small to detect these differences. The discovery of an A > T transversion in one individual with a Class II deformity underscores the genetic diversity within the population and the necessity of comprehensive genotyping to uncover rare genetic variants that might influence craniofacial development and the risk of malocclusion. This study highlights the need for larger studies to confirm these preliminary associations.

Malocclusion, characterized by its diverse phenotypic expression, significantly impacts patients’ quality of life. Over recent years, extensive attention has been directed towards the genetic basis of this condition, particularly focusing on various polymorphisms of the MATN1 gene. Among these, the rs1065755 polymorphism has emerged as particularly relevant, associated with an elevated risk of mandibular prognathism. In this study, employing DNA sequencing, we investigated the extent of association between the rs1065755 SNP and malocclusion risk within the Romanian population. Our approach concentrated on assessing continuous phenotypic variation through four cephalometric measurements, aiming for a comprehensive understanding beyond categorical phenotypes. The findings shed light on the relationship between the MATN1 rs1065755 SNP and the investigated dentofacial disorder, revealing a positive association between TT homozygous individuals and Class II skeletal malocclusion. However, further investigations employing larger sample sizes are necessary to validate these findings conclusively.