Cleft lip and/or palate: a comprehensive review and our treatment approach
DOI:
https://doi.org/10.2478/amb-2026-0049Keywords:
congenital facial anomalies, surgical techniques, uranoplasty, surgical outcomesAbstract
Cleft lip with or without cleft palate is the most common congenital malformation of the head and neck. Children with cleft anomalies may experience a multitude of physical and developmental challenges. Psychosocial and emotional concerns of the patients and their families can also occur. As such, comprehensive care for the patient with cleft lip and/or palate requires an interdisciplinary team. This article describes epidemiology, embryological developmental processes, known environmental and genetic risk factors, and their interaction, the assessment and current treatment recommendations for children born with cleft lip and/or cleft palate. We review the commonly used surgical techniques for repair, clinical outcomes and complications. Throughout the discussion, we share our experience and identify areas for future study with the focus on cleft palate management.
References
Shaw B, Semb G, Nelson P, et al. The EUROCLEFT PROJECT 1996-2000. Standards of Care for Cleft Lip and Palate in Europe. Amsterdam, IOS Press, 2000.
Anastassov Y. Congenital facial anomalies. Plovdiv, Polygraph commerce, 2006.
Mølsted K, Asher-McDade C, Brattström V, et al. A six-center international study of treatment outcome in patients with clefts of the lip and palate: Part 2. Craniofacial form and soft tissue profile. Cleft Palate Craniofac J, 1992, 29(5):398-404.
Anastassov Y. Multidisciplinary treatment of congenital facial anomalies. Dissertation for scientific and educational degree “Doctor of Medical Sciences”. Plovdiv, Medical University of Plovdiv, 2008.
Anastassov Y, Gigov K, Khater R, et al. A web-based national registry for facial anomalies (DFA) in Bulgaria: An Electronic Medical Record for Facial Anomalies. JCLPCA, 2017, 4(Suppl 1), S118-S125
World Health Organization. Global registry and database on craniofacial anomalies: report of a WHO Registry Meeting on Craniofacial Anomalies. Mossey P, Castilla E (Eds) Geneva, World Health Organization, 2003. https://iris.who.int/handle/10665/42840
Mossey PA, Modell B. Epidemiology of oral clefts 2012: an international perspective. Front Oral Biol, 2012, 16:1-18.
Mossey PA, Little J, Munger RG, et al. Cleft lip and palate. Lancet, 2009, 374(9703):1773-85.
Calzolari E, Bianchi F, Rubini M, et al. EUROCAT Working Group. Epidemiology of cleft palate in Europe: implications for genetic research. Cleft Palate Craniofac J, 2004, 41(3):244-9.
Calzolari E, Pierini A, Astolfi G, et al. Associated anomalies in multi‑malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries. Am J Med Genet A. 2007, 143A(6):528-37.
IPDTOC Working Group. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC). Cleft Palate Craniofac J, 2011, 48(1):66-81.
Shaw GM, Carmichael SL, Yang W, et al. Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997. Am J Med Genet A, 2004, 125A(3):250‑6.
Shprintzen RJ, Siegel-Sadewitz VL, Amato J, et al. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet, 1985, 20(4):585-95.
Sivertsen A, Wilcox AJ, Skjaerven R, et al. Familial risk of oral clefts by morphological type and severity: a population-based cohort study of first-degree relatives. BMJ, 2008, 336(7641):432‑4.
Vieira AR. Association between the transforming growth factor‑alpha gene and nonsyndromic oral clefts: a HuGE review. Am J Epidemiol, 2006, 163(9):790-810.
Vieira AR, Murray JC, Trembath D, et al. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. Am J Med Genet A, 2005, 135(2):220‑3.
Hinton A, Hunter S, Reyes G, et al. From pluripotency to islets: miRNAs as critical regulators of human cellular differentiation. Adv Genet, 2012, 79:1-34.
Jjingo D, Conley AB, Yi SV, et al. On the presence and role of human gene-body DNA methylation. Oncotarget, 2012, 3(4):462‑74.
Frebourg T, Oliveira C, Hochain P. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet, 2006, 43(2):138-42.
Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. J Oral Maxillofac Pathol, 2012, 16(1):64‑72.
Lidral AC, Moreno LM. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr, 2005, 17(6):731-9.
Cohen MM Jr. Syndromes with cleft lip and cleft palate. Cleft Palate J, 1978, 15(4):306-28.
Christensen K, Holm NV, Olsen J, et al. Selection bias in genetic-epidemiological studies of cleft lip and palate. Am J Hum Genet, 1992, 51(3):654-9.
Honein MA, Rasmussen SA, Reefhuis J, et al. Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology, 2007, 18(2):226-33.
Johnson CY, Little J. Folate intake, markers of folate status and oral clefts: is the evidence converging? Int J Epidemiol, 2008, 37(5):1041-58.
Botto LD, Lisi A, Bower C, et al. Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment. Birth Defects Res A Clin Mol Teratol, 2006, 76(10):693-705.
Yazdy MM, Honein MA, Xing J. Reduction in orofacial clefts following folic acid fortification of the U.S. grain supply. Birth Defects Res A Clin Mol Teratol, 2007, 79(1):16-23.
Krapels IP, Rooij IA, Wevers RA, et al. Myo-inositol, glucose and zinc status as risk factors for non‑syndromic cleft lip with or without cleft palate in offspring: a case-control study. BJOG, 2004, 111(7):661-8.
Warkany J, Nelson RC. Appearance of skeletal abnormalities in the offspring of rats reared on a deficient diet. Science, 1940, 92(2391):383-4.
Rothman KJ, Moore LL, Singer MR, et al. Teratogenicity of high vitamin A intake. N Engl J Med, 1995, 333: 1369–73.
Shaw GM, Wasserman CR, O’Malley CD, et al. Orofacial clefts and maternal anticonvulsant use. Reprod Toxicol, 1995, 9: 97–98.
Park-Wyllie L, Mazzotta P, Pastuszak A, et al. Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta‑analysis of epidemiological studies. Teratology, 2000, 62: 385–92.
Sperber GH. Formation of the primary and secondary palate. In: Cleft lip and palate: from origin to treatment. Wyszynski DF (Ed.), New York, Oxford University Press, 2002: 5–24.
Davis JS, Ritchie HP. Classification of congenital clefts of the lip and palate: with a suggestion for recording these cases. JAMA, 1922, 79(16):1323–1327.
Veau V. La Division palatine. Masson, Paris, 1931.
Fogh-Andersen P. Inheritance of harelip and cleft palate; contribution to the elucidation of the etiology of the congenital clefts of the face. Copenhagen, Nyt nordisk Forlag, 1942.
Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial anomalies. American Cleft Palate-Craniofacial Association. March, 1993. Cleft Palate Craniofac J. 1993 Mar;30 Suppl:S1-16.
Tessier P. Anatomical Classification of Facial, Cranio-facial and Latero-facial Clefts. J. Max.-Fac. Surg, 1976, 4:69-92.
Kavrakirov V. Congenital cleft lip and palate. Sofia, Med. Phys, 1960.
Aik-Ming L, Lun-Jou L. Chang Gung Palatoplasty: Evolution and Controversies, Med J, 2008, 31:335-45
Trier WC, Dreyer TM. Primary von Langenbeck palatoplasty with levator reconstruction: rationale and technique. Cleft Palate J, 1984, 21(4):254-62.
Wardill WEM. Technique of operation for cleft palate. Br J Surg, 1937, 25:117
Pigott RW, Albery EH, Hathorn IS. A comparison of three methods of repairing the hard palate. Cleft Palate Craniofac J, 2002, 39:383-91
Ito S, Noguchi M, Suda Y, et al. Speech evaluation and dental arch shape following pushback palatoplasty in cleft palate patients: supraperiosteal flap technique versus mucoperiosteal flap. J Craniomaxillofac Surg, 2006, 34:135-43
Becker M, Svensson H, McWilliam J. Adult skeletal profile in isolated cleft palate: a comparison of the von Langenbeck and Wardill procedures for primary repair of the palate. Scand J Plast Reconstr Surg and Surg, 2001, 35(4):387-97.
Lee SI, Lee HS, Hwang K, et al. Reconstruction of palatal defect using mucoperiosteal hinge flap and pushback palatoplasty. J Craniofac Surg, 2001, 12(6):561-3; discussion 564.
Pigott RW, Albery EH, Hathorn IS, et al. A comparison of three methods of repairing the hard palate. Cleft Palate Craniofac J, 2002, 39:383-91.
Bardach J. Two-flap palatoplasty: Bardach’s technique. Operative Techniques in Plastic and Reconstructive Surgery, 1995, 2:211-4.
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Copyright (c) 2026 К. Gigov, I. Ginev, M. Miteva (Author)
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