DefinePK

Abstract

Cleft lip and palate (CLP) is a significant congenital anomaly with profound medical, social, and economic implications, particularly in low-resource settings. This retrospective study aimed to determine the incidence and demographic patterns of CLP in Punjab, Pakistan, by analyzing 186 diagnosed cases across five tertiary care hospitals between January 2021 and December 2022. Data were extracted from medical records, surgical registries, and outpatient logs, capturing variables such as gender, maternal age, consanguinity, geographic distribution, syndromic associations, and surgical access. The annual incidence of CLP was calculated at 1.43 per 1,000 live births, exceeding global averages (1 in 700 births) and highlighting Punjab as a high-burden region. Males constituted 62.4% of cases, with isolated cleft lip (53.8%) more prevalent than combined cleft lip and palate (25.2%). Consanguineous marriages, predominantly first-cousin unions, accounted for 34.9% of cases, correlating with a 2.1-fold increased risk of CLP (p = 0.03). Maternal age over 30 years was associated with 1.8-fold higher odds of CLP, emphasizing the role of advanced maternal age in congenital anomalies. Geographic disparities were stark, with urban centers like Lahore (32.3%) reporting higher case volumes due to better diagnostic infrastructure, while rural regions faced systemic underreporting and delayed surgical access. Only 64.5% of patients underwent corrective surgery, with rural residents experiencing significant delays (>12-month post presentation). Syndromic associations, including cardiac and skeletal anomalies, were present in 15.6% of cases, predominantly linked to consanguinity. Socioeconomic barriers, such as low household income (67.7% earned <30,000 PKR/month) and limited maternal education, further restricted timely care. These findings underscore the urgent need for public health strategies targeting genetic counseling, folate supplementation programs, and decentralized surgical services to address Punjab’s CLP burden. Strengthening birth defect registries and community awareness campaigns could mitigate disparities and improve outcomes for affected families.