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OBJECTIVES/GOALS: Evaluate the impact of COVID-19 on oral clefts services including surgical and dental treatments in Puerto Rico. METHODS/STUDY POPULATION: This Observational retrospective cohort study will consider patients 0-21 y/o with CL/P that visited the UPR school of Dental Medicine, Pediatric University Hospital Dr. Antonio Ortiz and ongoing case-control research project Face-Genes. Records to be used are classified as follow: Pandemic (March 15, 2020 to March 15 2022) Pre-pandemic (March 15, 2015 to March 15, 2017) Power analysis (power=0.80 alpha=0.05) will be calculated. Unavailable and incomplete medical records and those that did not attended study clinic during study period will be excluded. Data extraction instrument will be based on previous published study. Descriptive statistics, Chi-square, Odds Ratios at 95% confidence intervals and multiple logistic regression will be estimated. RESULTS/ANTICIPATED RESULTS: We hypothesize that surgical and dental services in Puerto Rico will be adversely impacted because of COVID-19 pandemic. DISCUSSION/SIGNIFICANCE: CL/P are common congenital diseases that require early interdisciplinary attention. Lack of timely care as well as surgery and treatment delays, could be associated with poorer prognosis, increased morbidity and mortality. If there is high risk of dh services during emergency situations, our findings will help to allocate the available resources

Abstract Background The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA‐binding (exon 3, 4) or protein‐binding domains (exon 7–9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico. Methods We used PubMed with the search terms; "Van der Woude syndrome," “Popliteal pterygium syndrome,” "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants. Results Twenty‐one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7–9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein‐binding domain (exon 7–9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*). Conclusion Mutations in the protein and DNA‐binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.

OBJECTIVES/GOALS: Patients with nsCL/P are prone to infections due to their open like wound cleft and immune system susceptibility. COVID-19 affected nsCL/P patients access to care and treatment delays. This study will determine COVID-19 infection risk between children with nsCL/P compared to those unaffected. METHODS/STUDY POPULATION: Retrospective cohort of children 5 years old and under with nsCL/P (exposed group) and children without nsCL/P (unaffected group); matched by age and gender. Participants will be selected from ongoing case-control study (n=500), School of Dental Medicine, and Pediatric University Hospital. Power analysis will calculate minimum sample size (power=0.80 alpha=0.05). Exclusion criteria: syndromic clefts, patients without diagnosis information and with history of co-morbidity. Other bacterial and viral infections present at the time of COVID-19 diagnosis, sex, age, geographic location, COVID-19 vaccination status and others will be considered as possible cofounders. Descriptive statistics, Chi-square, Odds Ratios at 95% confidence intervals and multiple logistic regression will be estimated. RESULTS/ANTICIPATED RESULTS: We hypothesize that we will identify an increased risk of COVID-19 infection in children with nsCL/P than in those unaffected or children without nsCL/P. Children with nsCL/P will also have an increased risk of symptoms and complications of COVID-19 infection than those unaffected. DISCUSSION/SIGNIFICANCE: Knowing the increased risk of COVID-19 infection in children with nsCL/P will aid to prioritize treatment. If a higher risk of COVID-19 infection is found, it will generate a need to modify elective surgery status to semi-elective; minimizing delayed treatments, unnecessary hospitalizations, complications and increased cost of treatment.