Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study

Background/Objectives: Few studies have comprehensively examined dental anomalies in adolescents with genetic syndromes. This study aimed to assess their prevalence, types, and clinical patterns in a diverse sample of genetically confirmed cases. Methods: We conducted a retrospective cross-sectional study of 213 patients aged 12 to 18 years with various genetic syndromes, using clinical data originally collected between 2011 and 2014 at a tertiary center. Clinical examinations were complemented by radiographs when available. Anomalies were categorized by type, and a disproportionality analysis (Rate of Occurrence Ratio, ROR) quantified risk relative to syndrome representation. Results: Dental anomalies were present in 68% of adolescents. The most common findings were hypodontia, taurodontism (9%), and enamel hypoplasia (8%). Nearly half of the patients exhibited combined patterns, with hypodontia-taurodontism as the most characteristic combination (14%). Prevalence was particularly high in trisomy-based (80%) and osteogenesis-related (100%) syndromes. Down syndrome showed the strongest association (ROR 3.95; 95% CI: 2.15-7.25), while some conditions such as Turner, Ehlers-Danlos, and Tuberous sclerosis displayed significantly lower rates. Conclusions: Dental anomalies are both highly prevalent and patterned in adolescents with genetic syndromes. Their co-occurrence and specificity suggest that they may serve as useful diagnostic markers in syndromic evaluation.