Abstract:
Pakistan has one of the world’s highest incidences of cleft lip and palate (CL/P worldwide. Despite this burden, there remains scarcity of comprehensive data on its socio-demographic determinants, clinical variability, and research landscape in the multiethnic population of Pakistan. This work aimed to: (1) identify socio demo graphic, maternal, and obstetric risk factors for CL/P; (2) describe the clinical and ethno-demographic variability of CL/P subtypes; and m(3) review national research trends and gaps. This project integrated findings from multicenter case-control study (2021-2024) and a systematic review. The case control study included 730 participants (303 cases, 427 controls) recruited from tertiary hospitals and rural areas of Islamabad/Rawalpindi and Potohar region. Data on demographic, maternal, and clinical variables were analyzed using descriptive, bivariate, and multivariable logistic regression methods. The systematic review (1997-2023) synthesized 93 studies from literature available online. The case-control analysis revealed key risk factors: parental consanguinity (64% of cases), maternal depression during pregnancy, inadequate folic acid/vitamin use, first parity, and socio-demographic influences such as province, caste, family type, and father’s occupation. Cleft lip and palate (53%) was the most common phenotype, followed by cleft palate (28%) and cleft lip only (19%), with 67% being complete clefts. A male predominance (55%) and high rural representation (69%) were observed. The review highlighted a research bias toward surgical and dental management, with limited work on incidence, etiology, and molecular genetics. This integrated study underscores the multifactorial etiology of CL/P in Pakistan and emphasizes the need for large-scale, multiethnic research and targeted public health interventions addressing modifiable maternal and environmental risk factors.
Page(s):
231-231
DOI:
DOI not available
Published:
Journal: 4th International Conference of Sciences “Revamped Scientific Outlook of 21st Century, 2025” , November 12,2025, Volume: 1, Issue: 1, Year: 2025
Keywords:
Epidemiology
,
Cleft lip
,
Congenital Anomalies
,
cleft palate
,
genetic heterogeneity