Orofacial Cleft and Its Association with Consanguineous Marriage and Other Risk Factors: A Case-control Study from a Tertiary Care Hospital in Jammu Province
Citation Information :
Gupta A, Kaul B, Gulbar S, Kashani RN, Rajput S, Kaul A. Orofacial Cleft and Its Association with Consanguineous Marriage and Other Risk Factors: A Case-control Study from a Tertiary Care Hospital in Jammu Province. Int J Clin Pediatr Dent 2024; 17 (11):1258-1264.
Background: Orofacial cleft is among the most common craniofacial malformations. It presents a complex and multifactorial etiology that involves genetic and environmental factors. One of the etiological factors is consanguinity (marriage between blood relatives). Multiple environmental risk factors, such as advanced maternal age, parity, maternal smoking, radiation, alcohol consumption, diabetes mellitus, and maternal use of drugs (i.e., anticonvulsants), folic acid deficiency, etc., have also been linked to the development of cleft lip and/or palate (CL/P). There is a dearth of literature reporting the occurrence of cleft due to consanguinity and other risk factors.
Aim: The aim of this study is to describe the orofacial cleft demographics and to determine the influence of parental consanguinity and other associated risk factors on the occurrence of orofacial clefts (OFC) at a tertiary healthcare hospital in Jammu Province.
Materials and methods: This was a hospital-based case-control study. In the present study, data collection was specifically done regarding demographic features, history of consanguinity, degree of consanguinity, and other associated maternal risk factors in both the cleft and control groups.
Result: This study elucidates a significant association between parental consanguinity, degree of consanguinity, and other associated risk factors (i.e., maternal age ≥30 years, birth order ≥3, maternal smoking, alcohol consumption, and lack of folic acid consumption) with the occurrence of OFC.
Conclusion: Prevention is better than cure. Awareness programs and appropriate counseling should be conducted to educate the community about the risk factors and the anticipated genetic consequences of consanguinity to prevent the development of cleft anomalies in such populations.
World Health Organization. Global Registry and Database on Craniofacial Anomalies. In: Mossey PA, Castilla EE, editors. WHO Reports, Human Genetics Programme: International Collaborative Research on Craniofacial Anomalies. Geneva, Switzerland: WHO Publications; 2003.
Mossey PA, Modell B. Epidemiology of oral clefts 2012: an international perspective. Front Oral Biol 2012;16:1–18. DOI: 10.1159/000337464
Neogi SB, Singh S, Pallepogula DR, et al. Risk factors for orofacial clefts in India: a case-control study. Birth Defects Res 2017;109(16):1284–1291. DOI: 10.1002/bdr2.1073
Noorollahian M, Nematy M, Dolatian A, et al. Cleft lip and palate and related factors: a 10 years study in university hospitalised patients at Mashhad—Iran. Afr J Paediatr Surg 2015;12(4):286–290. DOI: 10.4103/0189-6725.172576
Vyas T, Gupta P, Kumar S, et al. Cleft of lip and palate: a review. J Family Med Prim Care 2020;9(6):2621–2625. DOI: 10.4103/jfmpc.jfmpc_472_20
Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet 2013;163(4):246–258. DOI: 10.1002/ajmg.c.31381
Oner DA, Tastan H. Cleft lip and palate: epidemiology and etiology. Otorhinolaryngol Head Neck Surg 2020;5:1–5. DOI: 10.15761/OHNS.1000246
Martinelli M, Palmieri A, Carinci F, et al. Non-syndromic cleft palate: an overview on human genetic and environmental risk factors. Front Cell Dev Biol 2020;8:592271. DOI: 10.3389/fcell.2020.592271
Silva CM, de Moraes Pereira MCM, de Queiroz TB, et al. Can parental consanguinity be a risk factor for the occurrence of nonsyndromic oral cleft? Early Hum Dev 2019;135:23–26. DOI: 10.1016/j.earlhumdev.2019.06.005
Acharya S, Sahoo H. Consanguineous marriages in India: prevalence and determinants. J Health Manag 2021;23(4):631–648. DOI: 10.1177/09720634211050458
Golalipour MJ, Kaviany N, Qorbani M, et al. Maternal risk factors for oral clefts: a case-control study. Iran J Otorhinolaryngol 2012;24(69):187–192.
Kawalec A, Nelke K, Pawlas K, et al. Risk factors involved in orofacial cleft predisposition—review. Open Med (Wars) 2015;10(1):163–175. DOI: 10.1515/med-2015-0027
Allagh KP, Shamanna BR, Murthy GVS, et al. Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis. PLoS One 2015;10(3):e0118961. DOI: 10.1371/journal.pone.0118961
Jalilevand N, Jalaie S. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran. J Res Med Sci 2015;20(6):548–553. DOI: 10.4103/1735-1995.165951
de Aquino SN, Machado RA, Paranaíba LMR, et al. A review of seasonality of cleft births—the Brazil experience. J Oral Biol Craniofac Res 2017;7(1):2–6. DOI: 10.1016/j.jobcr.2016.03.002
Pool SMW, van der Lek LM, de Jong K, et al. Embryologically based classification specifies gender differences in the prevalence of orofacial cleft subphenotypes. Cleft Palate Craniofac J 2021;58(1):54–60. DOI: 10.1177/1055665620935363
Messer LC, Luben TJ, Mendola P, et al. Urban-rural residence and the occurrence of cleft lip and cleft palate in Texas, 1999–2003. Ann Epidemiol 2010;20(1):32–39. DOI: 10.1016/j.annepidem.2009.09.006
Jagomagi T, Soots M, Saag M. Epidemiologic factors causing cleft lip and palate and their regularities of occurrence in Estonia. Stomatologija 2010;12(4):105–108.
Mbuyi-Musanzayi S, Kayembe TJ, Kashal MK, et al. Non-syndromic cleft lip and/or cleft palate: epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study. J Craniomaxillofac Surg 2018;46(7):1051–1058. DOI: 10.1016/j.jcms.2018.05.006
Zandi M, Heidari A. An epidemiologic study of orofacial clefts in Hamedan City, Iran: a 15-year study. Cleft Palate Craniofac J 2011;48(4):483–489. DOI: 10.1597/09-035
Maranhão SC, Sá J, Cangussú MCT, et al. Nonsyndromic oral clefts and associated risk factors in the state of Bahia, Brazil. Eur Arch Paediatr Dent 2021;22(2):121–127. DOI: 10.1007/s40368-020-00522-0
Weinberg SM, Neiswanger K, Martin RA, et al. The Pittsburgh oral-facial cleft study: expanding the cleft phenotype. Background and justification. Cleft Palate Craniofac J 2006;43(1):7–20. DOI: 10.1597/04-122r1.1
Yassaei S, Mehrgerdy Z, Zareshahi G. Prevalence of cleft lip and palate in births from 2003–2006 in Iran. Community Dent Health 2010;27(2):118–121.
Burdi AR, Silvey RG. Sexual differences in closure of the human palatal shelves. Cleft Palate J 1969;6:1–7.
De Souza Freitas JA, da Silva Dalben G, Santamaria M Jr, et al. Current data on the characterization of oral clefts in Brazil. Braz Oral Res 2004;18(2):128–133. DOI: 10.1590/s1806-83242004000200007
Bittles AH, Black ML. Global Prevalence of Consanguinity; 2015.
Amudha S, Aruna N, Rajangam S. Consanguinity and chromosomal abnormality. Indian J Hum Genet 2005;11:108–110. DOI: 10.4103/0971-6866.16812
Jose BA, Subramani SA, Mokhasi V, et al. Consanguinity and clefts in the craniofacial region: a retrospective case-control study. J Cleft Lip Palate Craniofac Anomal 2015;2:113–117. DOI: 10.4103/2348-2125.162965
Aziza A, Kandasamy R, Shazia S. Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia. Ann Saudi Med 2011;31(5):488–493. DOI: 10.4103/0256-4947.84626
Ghonmode SW, Kalaskar AR, Kalaskar RR, et al. Vista of cleft lip and palate in India. J Evol Med Dent Sci 2012;1:1102–1111. DOI: 10.14260/jemds/181
International Institute for Population Sciences (IIPS) and ICF. National Family Health Survey (NFHS-5), 2019–21: India. Mumbai: IIPS; 2021.
Turnpenny PD, Ellard S. Emery's Elements of Medical Genetics. 14th ed. Philadelphia: Elsevier/Churchill Livingstone; 2012. pp. 269–270.
Aljohar A, Ravichandran K, Subhani S. Pattern of cleft lip and palate in hospital-based population in Saudi Arabia: retrospective study. Cleft Palate Craniofac J 2008;45(6):592–596. DOI: 10.1597/06-246.1
De Queiroz Herkrath APC, Herkrath FJ, Rebelo MAB, et al. Parental age as a risk factor for non-syndromic oral clefts: a meta-analysis. J Dent 2012;40(1):3–14. DOI: 10.1016/j.jdent.2011.10.002
Vieira AR, Orioli IM. Birth order and oral clefts: a meta analysis. Teratology 2002;66(5):209–216. DOI: 10.1002/tera.10088
Leite ICG, Koifman S. Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil. Braz Oral Res 2009;23(1):31–37. DOI: 10.1590/s1806-83242009000100006
Vieira AR, Dattilo S. Oxygen, left/right asymmetry, and cleft lip and palate. J Craniofac Surg 2018;29(2):396–399. DOI: 10.1097/SCS.0000000000004080
Lebby KD, Tan F, Brown CP. Maternal factors and disparities associated with oral clefts. Ethn Dis 2010;20(1 Suppl 1):S1-146–S1-149.
Omo-Aghoja VW, Omo-Aghoja LO, Ugboko VI, et al. Antenatal determinants of oro-facial clefts in Southern Nigeria. Afr Health Sci 2010;10(1):31–39.
Kotch LE, Sulik KK. Experimental fetal alcohol syndrome: proposed pathogenic basis for a variety of associated facial and brain anomalies. Am J Med Genet 1992;44(2):168–176. DOI: 10.1002/ajmg.1320440210
De-Regil LM, Fernández-Gaxiola AC, Dowswell T, et al. Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database Syst Rev 2010;(10):CD007950. DOI: 10.1002/14651858.CD007950.pub2
Ingrid Goh Y, Bollano E, Einarson TR, et al. Prenatal multivitamin supplementation and rates of congenital anomalies: a meta-analysis. J Obstet Gynaecol Can 2006;28(8):680–689. DOI: 10.1016/S1701-2163(16)32227-7