Etiological Factors of Orofacial Clefts in a Hospital-Based Population: A Descriptive Analytical Study

Cleft lip (CL) and cleft palate (CP) are the most common congenital anomalies affecting the craniofacial region. These conditions occur when the tissues forming the upper lip and the roof of the oral cavity fail to fuse properly during embryonic development, usually in the first trimester. Their etiology is multifactorial. Functionally, CL, CP, and cleft lip and palate (CLP) can lead to significant challenges, including feeding difficulties, speech and hearing problems, and psychological issues in children.

This study was conducted at Drs. Sudha & Nageswara Rao Siddhartha Institute of Dental Sciences, Chinoutpalli, Andhra Pradesh, India. A total of 404 patients from 2017 to 2025 were evaluated for variables such as age, sex, laterality of CL (complete and incomplete), consanguinity, paternal and maternal age, birth order, prenatal folic acid intake, prenatal maternal infections, family history, previous abortions, abnormalities detected in antenatal scans, and socioeconomic status, using a structured questionnaire. Cleft patterns were classified according to the Kernahan and Stark classification for CL and CP.

Etiological factors, such as male gender, consanguinity, maternal age, prenatal folic acid supplementation history, prenatal infections, abnormalities detected during antenatal ultrasound, and socioeconomic status, were found to be significant for CL, CP, and CLP (p ≤ 0.001). Complete CL occurring on the left side, paternal age, first-born status, and family history were also statistically significant (p = 0.01). In contrast, incomplete CL (p = 0.17), CL with alveolar involvement (p = 0.23), and previous abortion history (p = 0.093) showed no significant association. Multivariate logistic regression was used to determine odds ratios (ORs) and assess confounding factors. Consanguinity, prenatal maternal folic acid deficiency, maternal age between 30-35 and 35-40 years, paternal age between 35 and 40 years, first-born status, and lower socioeconomic status were identified as the strongest risk factors for CL, CP, and CLP. Prenatal infections were more strongly associated with CL, while positive family history was more likely associated with CP. Abnormalities detected during prenatal scans were associated with CP and CLP.

The present study identified several significant risk factors for CL, CP, and CLP. The prevalence was higher among male children. Incomplete CL and CL with alveolar involvement showed no association with gender. Key contributing factors included consanguineous marriages, advanced maternal and paternal age at conception, folic acid deficiency, first-born status, and lower socioeconomic status. Additional associated factors were prenatal infections (for CL), positive family history (for CP), and abnormalities detected during prenatal scans (for CP and CLP). Previous abortion history showed no association with clefts.