Clinical spectrum, familial patterns, and surgical interventions in patients with cleft lip and/or palate: experience from a specialized cleft care center in Pakistan.

Abstract

Background: Cleft lip and/or palate (CL/P) is a common congenital anomaly with multifactorial etiology. Data describing the phenotypic spectrum of CL/P in Pakistan is limited. This study aimed to describe the demographic and clinical characteristics, familial pattern, surgical intervention profile, and maternal risk factors associated with CL/P in a Pakistani cohort.

Methods: Patients with CL/P were recruited from a tertiary care hospital in Faisalabad, Pakistan, into a cross-sectional study design during September 2023 and March 2024. Descriptive statistics were collected, and bivariable and multivariable logistic regression analyses were performed.

Results: A total of 503 independent patients with CL/P were enrolled (53% male). CL/P was categorized into cleft lip (CL, 26%), cleft palate (CP, 36%), and cleft lip with palate (CLP, 38%). Male sex was associated with higher odds of CL, while female sex was associated with higher odds of CP. Rural residence was a significant predictor for CLP (adjusted odds ratio (aOR)=1.80, p<0.05), whereas age 1-5 years was strongly associated with CP (aOR=2.36, p<0.001). Parental consanguinity was notably high (77%), and 18% had a positive family history of CL/P. Only 38% of mothers reported folic acid supplementation. Pesticide exposure was reported in 32% of mothers. Surgical correction had been performed in only 27% of patients.

Conclusion: Cleft types demonstrate distinct demographic and maternal risk factor profiles. High rates of consanguinity, low folic acid uptake, and significant surgical gaps highlight critical areas for public health intervention in resource-limited settings.