Demographic and Clinical Spectrum of Oral Clefts in a Clinical Cohort: A Focus on Phenotypic Heterogeneity and Sociodemographic Correlates

Abstract

Introduction:

Cleft lip and/or palate (CL/P) is among the most common congenital anomalies globally. Pakistan has one of the highest incidences of CL/P worldwide. This study aims to investigate the clinical variability and ethno-demographic disparities of CL/P in the Islamabad and Upper Punjab region of Pakistan.

Methods:

An observational, multicenter, cross-sectional study was conducted from 2020 to 2023. Patients with CL/P were recruited from tertiary hospitals, surgical camps, and rural communities. Clinical classification and demographic profiling were performed. Descriptive statistics summarized sample characteristics, and logistic regression was applied to assess associations with demographic variables.

Results:

A total of 303 patients were enrolled, with a male predominance (55%). The most frequent presentation was cleft lip and palate (CLP, 53%), followed by cleft palate (CP, 28%) and cleft lip (CL, 19%). Complete clefts were more common (67%), and unilateral forms (74%) were predominantly left-sided (62%). Sporadic cases comprised 79%, while parental consanguinity was reported in 64% of the sample. First-parity births accounted for 35%, and isolated clefts were observed in 48%. Syndromic associations (52%) were primarily neurological, sensorineural, and limb anomalies. Most patients were from rural areas (69%), Punjab province (53%), Punjabi-speaking households (40%), and low socioeconomic strata (50%). Significant variation in cleft distribution was observed across demographic subgroups.

Conclusion:

CL/P in this region exhibits high clinical heterogeneity and striking ethno-demographic disparities, reflecting the interplay of genetic, environmental, and socioeconomic factors. These findings highlight the need for targeted interventions in resource-limited settings, emphasizing the organization of surgical cleft camps in rural areas, the involvement of Non-Governmental Organizations (NGOs) supporting cleft care, and the promotion of health education in communities with high consanguinity and socioeconomic vulnerability.