Cleft Lip and/or Cleft Palate

Living reference work entry

Abstract

Cleft lip or palate (CL/CP) is the most common craniofacial malformation with an estimated incidence from approximately 1 in 700 to 1 in 1,000 live births among Caucasians (Carinci et al. 2000). CL/CP may occur as an isolated finding or may be found in association with other congenital malformations.

Keywords

Interferon Methotrexate Folic Acid Smoke Stein 

References

  1. Bergé, S. J., Plath, H., Van de Vondel, P. T., et al. (2001). Fetal cleft lip and palate: Sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound in Obstetrics & Gynecology, 18, 422–431.CrossRefGoogle Scholar
  2. Bonaiti-Pellie, C., & Smith, C. (1974). Risk tables for genetic counselling in some common congenital malformations. Journal of Medical Genetics, 11, 374–377.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Carinci, F., Pezzetti, F., Scapoli, L., et al. (2000). Genetics of nonsyndromic cleft lip and palate: A review of international studies and data regarding the Italian population. The Cleft Palate-Craniofacial Journal, 37, 33–40.CrossRefPubMedGoogle Scholar
  4. Chen, H. (1988). Medical genetics handbook (pp. 320–321). St Louis: Warren H Green.Google Scholar
  5. Cockell, A., & Lees, M. (2000). Prenatal diagnosis and management of orofacial clefts. Prenatal Diagnosis, 20, 149–151.CrossRefGoogle Scholar
  6. Curtis, E., Fraser, F., & Warburton, D. (1961). Congenital cleft lip and palate: Risk figures for counselling. American Journal of Diseases of Children, 102, 853–857.CrossRefGoogle Scholar
  7. De La Pedraja, J., Erbella, J., McDonald, W. S., et al. (2000). Approaches to cleft lip and palate repair. The Journal of Craniofacial Surgery, 11, 562–571.CrossRefGoogle Scholar
  8. Endrica, M. C., & Kapp-Simon, K. A. (1999). Psychological issues in craniofacial care: State of the art. The Cleft Palate-Craniofacial Journal, 36, 3–11.CrossRefGoogle Scholar
  9. Fraser, F. C. (1970). The genetics of cleft lip and palate. American Journal of Human Genetics, 22, 336–352.PubMedPubMedCentralGoogle Scholar
  10. Habib, Z. (1978a). Factors determining occurrence of cleft lip and cleft palate. Surgery, Gynecology & Obstetrics, 146, 105–110.Google Scholar
  11. Habib, Z. (1978b). Genetic counseling and genetics of cleft lip and palate. Obstetrical and Gynecological Survey, 33, 441–447.CrossRefPubMedGoogle Scholar
  12. Hartridge, T. (1999). The role of folic acid in oral clefting. British Journal of Orthodontics, 26, 115–120.CrossRefPubMedGoogle Scholar
  13. Hibbert, S. A., & Field, J. K. (1996). Molecular basis of familial cleft lip and palate. Oral Diseases, 2, 238–241.CrossRefPubMedGoogle Scholar
  14. Jackson, A., Bromley, R., Morrow, J., et al. (2015). In utero exposure to valproate increases the risk of isolated cleft palate. Archives of Disease in Childhood. Fetal Neonatal Edition, F1–F5. [Epub ahead of print].Google Scholar
  15. Kim, D. W., Chung, S.-W., Jung, H.-D., et al. (2015). Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations. Maxillofacial Plastic and Reconstructive Surgery, 37, 24–28.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Kirschner, R. E., & LaRossa, D. (2000). Cleft lip and palate. Otolaryngologic Clinics of North America, 33, 1191–1215.CrossRefPubMedGoogle Scholar
  17. Lee, W., Kirk, J. S., Shaheen, K. W., et al. (2000). Fetal cleft lip and palate detection by three-dimensional ultrasonography. Ultrasound in Obstetrics & Gynecology, 16, 314–320.CrossRefGoogle Scholar
  18. Mehrotra, D. (2015). Genomic expression in non syndromic cleft lip and palate patients: A review. Journal of Oral Biology and Craniofacial Research, 5, 86–91.CrossRefPubMedPubMedCentralGoogle Scholar
  19. Mulliken, J. B., & Benacerraf, B. R. (2001). Prenatal diagnosis of cleft lip. What the sinologist needs to tell the surgeon. Journal of Ultrasound in Medicine, 20, 1159–1164.PubMedGoogle Scholar
  20. Murray, J. C. (2002). Gene/environment causes of cleft lip and/or palate. Clinical Genetics, 61, 248–256.CrossRefPubMedGoogle Scholar
  21. Prescott, N. J., Winter, R. M., & Malcolm, S. (2001). Nonsyndromic cleft lip and palate: Complex genetics and environmental effects. Annals of Human Genetics, 65, 505–515.CrossRefPubMedGoogle Scholar
  22. Robin, N. H., Baty, H., Franklin, J., et al. (2006). The multidisciplinary evaluation and management of cleft lip and palate. Southern Medical Journal, 99, 1111–1120.CrossRefPubMedGoogle Scholar
  23. Sedghi, M., Abdali, H., Memarzadeh, M., et al. (2015). Identification of proximal and distal 22q11.1 microduplications among patients with cleft lip and/or palate: A novel inherited atypical 0.6 Mb duplication. Genetics Research International, 2015, 1–5.CrossRefGoogle Scholar
  24. Shaye, D. (2014). Update on outcomes research for cleft lip and palate. Current Opinion in Otolaryngology & Head and Neck Surgery, 22, 255–259.CrossRefGoogle Scholar
  25. Shaye, D., Liu, C. C., & Tollefson, T. T. (2015). Cleft lip and palate. An evidence-based review. Facial Plastic Surgery Clinics of North America, 23, 357–372.CrossRefPubMedGoogle Scholar
  26. Stein, J., Mullikan, J. B., Stal, S., et al. (1995). Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 mutigenerational families. American Journal of Human Genetics, 57, 257–272.PubMedPubMedCentralGoogle Scholar
  27. Tolarova, M. (1972). Empirical recurrence risk figures for genetic counseling of clefts. Annotation of results in research. Acta Chirurgiae Plasticae, 14, 234–235.PubMedGoogle Scholar
  28. Tolarova, M., & Harris, J. (1995). Reduced occurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins. Teratology, 51, 71–78.CrossRefPubMedGoogle Scholar
  29. van der Woude, A. (1954). Fistula labii inferioris congenita and its association with cleft lip and palate. American Journal of Human Genetics, 6, 244–256.Google Scholar
  30. Wang, G., Shan, R., Zhao, L., et al. (2011). Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis. European Journal of Radiology, 79, 437–442.CrossRefPubMedGoogle Scholar
  31. Wyszynski, D. F., & Beaty, T. H. (1996). Review of the role of potential teratogens in the origin of human non-syndromic oral clefts. Teratology, 53, 309–317.CrossRefPubMedGoogle Scholar
  32. Wyszynski, D. F., Beaty, T. H., & Maestri, N. (1996). Genetics of nonsyndromic oral clefts revisited. The Cleft Palate-Craniofacial Journal, 33, 406–417.CrossRefPubMedGoogle Scholar
  33. Yu, W., Serrano, M., Miguel, S. S., et al. (2009). Cleft lip and palate genetics and application in early embryological development. Indian Journal of Plastic Surgery, 42(Suppl), S35–S50.PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations