Abstract
Cleft lip and palate are one of the most common congenital anomalies. This anomaly occurs during the organogenesis period from 4th week to 10th week of gestation because the frontonasal prominence fails to fuse with the maxillary prominence. Pathophysiology of the cleft lip and palate is multifactorial. Several genetic mutations and environmental factors are associated with cleft lip and palate.
Aims and Scope: This chapter presents a brief overview of the etiology and the etiopathology of the cleft lip and palate.
References
Beaty TH et al (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42(6):525–529
Beaty TH et al (2013) Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet 132(7):771–781
Bird TM et al (2006) National rates of birth defects among hospitalized newborns. Birth Defects Res A Clin Mol Teratol 76(11):762–769
de Lima RL et al (2009) Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med 11(4):241–247
DeRoo LA et al (2008) First-trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study. Am J Epidemiol 168(6):638–646
Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12(3):167–178
Elahi MM, Jackson IT, Elahi O, Khan AH, Mubarak F, Tariq GB, Mitra A (2004) Epidemiology of cleft lip and cleft palate in Pakistan. Plast Reconstr Surg 113(6):1548–1555
Jentink J et al (2010) Valproic acid monotherapy in pregnancy and major congenital malformations. N Engl J Med 362(23):2185–2193
Kousa YA, Schutte BC (2016) Toward an orofacial gene regulatory network. Dev Dyn 245(3):220–232
Krapels IP et al (2004) Maternal nutritional status and the risk for orofacial cleft offspring in humans. J Nutr 134(11):3106–3113
Mangold E et al (2010) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42(1):24–26
Mossey PA, Modell B (2012) Epidemiology of oral clefts 2012: an international perspective. Front Oral Biol 16:1–18
Munger RG et al (2009) Plasma zinc concentrations of mothers and the risk of oral clefts in their children in Utah. Birth Defects Res A Clin Mol Teratol 85(2):151–155
Seto-Salvia N, Stanier P (2014) Genetics of cleft lip and/or cleft palate: association with other common anomalies. Eur J Med Genet 57(8):381–393
Shahrukh Hashmi S et al (2010) Maternal fever during early pregnancy and the risk of oral clefts. Birth Defects Res A Clin Mol Teratol 88(3):186–194
Slator R et al (2009) Understanding cleft lip and palate. 1: an overview. J Fam Health Care 19(3):101–103
Vijayan V et al (2018) Association of WNT pathway genes with nonsyndromic cleft lip with or without cleft palate. Cleft Palate Craniofac J 55(3):335–341
Zucchero TM et al (2004) Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351(8):769–780
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Singapore Pte Ltd.
About this entry
Cite this entry
Tahmeedullah, T., Hayat, W. (2022). Etiology of Cleft Lip and Palate. In: Fayyaz, G.Q. (eds) Surgical Atlas of Cleft Palate and Palatal Fistulae. Springer, Singapore. https://doi.org/10.1007/978-981-15-3889-6_1-1
Download citation
DOI: https://doi.org/10.1007/978-981-15-3889-6_1-1
Received:
Accepted:
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-15-3889-6
Online ISBN: 978-981-15-3889-6
eBook Packages: Springer Reference MedicineReference Module Medicine