The Current Understanding of Cleft Lip Malformations

Nina Wantia; Gerhard Rettinger

doi:10.1055/s-2002-33061

Facial Plastic Surgery, Table of Contents

Facial Plast Surg 2002; 18(3): 147-154
DOI: 10.1055/s-2002-33061

The Current Understanding of Cleft Lip Malformations

Nina Wantia, Gerhard Rettinger

ENT Department, Univeristy of Ulm, Ulm, Germany

Abstract

ABSTRACT

Cleft lip with or without cleft palate is one of the most common congenital malformations. Epidemiology differentiates between cleft malformations connected with syndromes and the more common nonsyndromic forms not associated with other deformities. Although many syndromes with cleft lip with or without cleft palate are known, the majority of orofacial clefts are of the nonsyndromic form. These are known to be of multifactorial origin, with both environmental and genetic factors in their etiology, most of which remain to be fully investigated. Recent literature reveals that wide ethnical and racial variations in the occurrence of cleft lip and/or palate exist. The purpose of this overview is to show the current standing of research in this field. Genetics, environmental factors, and morphogenesis of the primary and secondary palate in normal development and cleft malformations are especially emphasized.

KEYWORDS

Cleft lip - cleft palate - epidemiology - genetics - morphogenesis

Full Text

References

REFERENCES

1 Bardach J, Morris H. Multidisciplinary Management of Cleft Lip and Palate. 1st ed. Philadelphia, PA: WB Saunders Co 1990: 134-158
2 Vanderas A P. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate J . 1987; 24 216-225
3 Christensen K. The 20th century Danish facial cleft population-epidemiological and genetic-epidemiological studies. Cleft Palate Craniofac J . 1999; 36 96-104
4 Natsume N, Kawai T, Kohama G. Incidence of cleft lip and cleft palate in 39,696 Japanese babies born during 1983. Br J Oral Maxillofac Surg . 2000; 38 605-607
5 Shapira Y, Lubit E, Kuftinec M M, Borrell G. The distribution of clefts of the primary and secondary palates by sex, type, and location. Angle Orthod . 1999; 69 523-528
6 Gorlin R J, Cohen M M, Levin L S. Syndromes of the Head and Neck. Oxford: Oxford University Press; 1990
7 Wong F K, Karsten A, Larson O. Clinical and genetic studies of Van der Woude syndrome in Sweden. Acta Odontol Scand . 1999; 57 72-76
8 Kallen B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet . 1996; 65 160-166
9 Alikasfoglu M, Malcoc N, Ceviz N. Microdeletion of 22q11 in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatr . 2000; 42 215-218
10 Guion-Almeida M L, Zechi-Ceide R M, Richieri-Costa A. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clin Dysmorphol . 2000; 9 269-272
11 Dubey S P, Garap J P. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. Int J Pediatr Otorhinolaryngol . 2000; 54 51-57
12 Kelman G F, Aronoff R C. Ectrodactyly-ectodermal dysplasia-clefting syndrome. J Am Pediatr Med Assoc . 2000; 90 460-464
13 Kobayashi J. 4p-syndrome and 9p tetrasomy mosaicism with cleft lip and palate. J Craniomaxillofac Surg . 2000; 28 165-170
14 Murray J. Face facts: genes, environment, and clefts. Am J Hum Genet . 1995; 57 227-232
15 Shaw D, Ray A, Marazita M, Field L. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL+/- P). Am J Hum Genet . 1993; 53 1156-1157
16 Bianchi F, Calzolari E, Ciulli L. Environment and genetics in the etiology of cleft lip and cleft palate with reference to the role of folic acid. Epidemiol Prev . 2000; 24 21-27
17 Christensen K, Fogh-Andersen P. Cleft lip (+/- cleft palate) in Danish twins 1970-1990. Am J Med Genet . 1993; 47 910-916
18 Ray A K, Field L L, Marazita M L. Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: evidence for an autosomal major locus. Am J Hum Genet . 1993; 52 1006-1011
19 Johnston M C, Bronsky P T. Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med . 1995; 6 25-79
20 Miettinen P, Chien J R, Shum L. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet . 1999; 22 69-73
21 Machida J, Yoshiura K, Funkhauser C D, Natsume N, Kawai T, Murray J C. Transforming growth factor-alpha: genomic structure, boundary sequences, mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics . 1999; 61 237-242
22 Carinci F, Pezzetti F, Scapoli L, Martinelli M, Carinci P, Tognon M. Genetics of nonsyndromic cleft lip and palate: a review of international studies and data regarding the Italian population. Cleft Palate Craniofac J . 2000; 37 33-40
23 Prescott N J, Lees M M, Winter R M, Malcolm S. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two-stage genome scan of affected sib-pairs. Hum Genet . 2000; 106 345-350
24 Sakata Y, Tokunaga K, Yonehara Y. Significant association of HLA-B and HLA-DRB1 alleles with cleft lip with or without cleft palate. Tiss Antigens . 1999; 53 147-152
25 Wyszysnski D, Beaty T. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts. Teratology . 1996; 53 309-317
26 Natsume N, Kawai T, Ogi N, Yoshida W. Maternal risk factors in cleft lip and palate: case control study. Br J Oral Maxillofac Surg . 2000; 38 23-25
27 De Paola P D, Mandella R D. Folate deficiency and in vitro palatogenesis I: effects of a folate-deficient culture on rabbit palate fusion and folate pools. J Craniofac Genet Dev Biol . 1981; 1 5-13
28 Abrishamchian A R, Khoury M J, Calle E E. The contribution of maternal epilepsy and its treatment to the etiology of oral clefts: a population-based case-control study. Genet Epidemiol . 1994; 11 343-351
29 Hartridge T, Illing H M, Sandy J R. The role of folic acid in oral clefting. Br J Orthod . 1999; 26 115-120
30 Arpino C, Brescianini S, Robert E. Teratogenic effects of antiepileptic drugs: use of an International Database on Malformations and Drug Exposure. Epilepsia . 2000; 41 1436-1443
31 Natsume N, Kawai T, Suzuki T. Preference for vegetables rich in beta-carotene and manifestation of cleft lip and/or palate. Plast Reconstr Surg . 1995; 95 934-935
32 Narukawa T, Natsume N, Miura S, Kawai T. Decrease in cleft lip and palate by vitamin B₁₂ in CL/FR mice. Aichi Gakuin Dent Sci . 1988; 1 29-34
33 Helms J A, Kim C H, Hu D, Minkoff R, Thaller C, Eichele G. Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev Biol . 1997; 187 25-35
34 Biale Y, Lewenthal H. Effect of folic acid supplementation on congenital malformations due to anticonvulsive drugs. Eur J Obstet Gynecol Reprod Biol . 1984; 18 211-216
35 Chung K C, Kowalski C P, Kim H M, Buchman S R. Maternal cigarette smoking during pregnancy and the risk of having a child with cleft lip/palate. Plast Reconstr Surg . 2000; 105 485-491
36 Hwang S J, Beaty T H, Panny S R. Association study of transforming growth factor-alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am J Epidemiol . 1995; 141 629-636
37 Cooper M E, Stone R A, Liu Y, Hu D N, Melnick M, Marazita M L. Descriptive epidemiology of nonsyndromic cleft lip with or without cleft palate in Shanghai, China, from 1980 to 1989. Cleft Palate Craniofac J . 2000; 37 274-280
38 Bluestone C, Stool S. Pediatric Otolaryngology. Vol II. Philadelphia, PA: WB Saunders Co 1983: 865-875
39 Diewert V M, Wang K Y. Recent advances in primary palate and midface morphogenesis research. Crit Rev Oral Biol Med . 1992; 4 111-130
40 Wang K Y, Chang F H, Chiang C P, Chen K C, Kuo M Y. Temporal and spatial expression of erbB4 in ectodermal and mesenchymal cells during primary palatogenesis in noncleft and cleft strains of mice. J Oral Pathol Med . 1998; 27 141-146
41 Stark R. Cleft Palate-A Multidisciplinary Approach. New York, NY: Hoeber Medical Division 1968: 45-69
42 Wang K Y, Juriloff D M, Diewert V M. Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice. J Craniofac Genet Dev Biol . 1995; 15 99-116
43 Sun D, Baur S, Hay E D. Epithelial-mesenchymal transformation is the mechanism for fusion of the craniofacial primodia involved in morphogenesis of the chicken lip. Dev Biol . 2000; 228 337-349