Science Journal of Clinical Medicine

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Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care

Received: 02 January 2016    Accepted: 07 January 2016    Published: 16 April 2016
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Abstract

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treatment in multiple surgeries, speech therapy, and orthodontic treatments over first 18 years of life. Of special interest is etiology, incidence, risk factors and prevention. Better understanding of the embryology and genetics of orofacial clefting is crucial for development of a biologically relevant orofacial cleft classification system. The recent identification of specific genes involved in syndromic and non-syndromic orofacial clefting shows a correlation between both conditions with an overlapping genetic basis. However, it has limited application with screening of specific candidates, association studies and genome-wide scans in revealing the molecular basis of human clefting. With a heavy bearing of this condition on the patient and the family alike, providing care for these patients and families can be challenging. Surgically repaired clefts have residual deformity due to scarring and abnormal facial development affecting the social integration of the patient. It is of paramount importance, as the first contact professional, the oral physician must be patient, understanding and empathetic and must record a complete prenatal and natal history; urge the parents to seek immediate care and stress the importance of genetic counselling and prenatal diagnosis in the event of a future pregnancy.

DOI 10.11648/j.sjcm.s.2016050401.13
Published in Science Journal of Clinical Medicine (Volume 5, Issue 4-1, July 2016)

This article belongs to the Special Issue Clinical Conspectus on Cleft Deformities

Page(s) 14-19
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Cleft Lip and Palate, Etiology of Cleft, Oral Physician and Cleft, Prenatal Diagnosis of Cleft, Genetic Counselling for Cleft Deformities

References
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[3] Erickson JD. Racial variations in the incidence of congenital malformations. Ann Hum Genet 1976; 39: 315-20.
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[5] Mitchell LE, Risch N. Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet 1992; 51: 323-32.
[6] Mitchell LE, Risch N. Correlates of genetic risk for nonsyndromic cleft lip with or without cleft palate. Clin Genet 1993; 43: 255-60.
[7] Carter CO. Genetics of common disorders. Br Med Bull 1969; 25: 52-7.
[8] Demenais F, Bonaiti-Pellie C, Briard ML, et al. An epidemiologic and genetic study of facial clefting in France, n. Segregation analysis. J Med Genet 1984; 21: 436-40.
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[10] Clementi M, Tenconi R, Collins A, et al. Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy. Hum Hered 1995; 45: 157-64.
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[13] Chung CS, Beechert AM, Lew RE. Test of genetic heterogeneity of cleft lip with or without cleft palate as related to race and severity. Genet Epidemiol 1989; 6: 625-31.
[14] Marazita ML, Hu DN, Spence MA, et al. Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Am J Hum Genet 1992; 51: 648-53.
[15] Nemana LJ, Marazita ML, Melnick M. Genetic analysis of cleft lip with or without cleft palate in Madras, India. Am J Med Genet 1992; 42: 5-9.
[16] Ray AK, Field LL, Marazita ML. Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: evidence for an autosomal major locus. Am J Hum Genet 1993; 52: 1006-11.
[17] Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990; 6: 222-8.
[18] Mitchell LE, Christensen K. Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. Am J Med Genet 1996; 61: 371-6.
[19] Farrall M, Holder S. Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet 1992; 50: 270-7.
[20] The many faces and factors of orofacial clefts. Schutte BC, Murray JC Hum Mol Genet. 1999; 8(10): 1853-9.
[21] Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate. Theresa M. Zucchero, B. S. n engl j med 351; 8 www.nejm.org august 19, 2004.
[22] Mossey PA, Little J. Chapter 12: Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, editor. Cleft lip and palate. From origin to treatment. Oxford University Press; 2002. Aug, pp. 127–58. ISBN: 0-19-513906-2. 2002.
[23] Marilyn C. Jones. Cleft palate foundation: Genetics and You. 2nd edition. 2008 Reprint.
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Author Information
  • Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India

  • Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India

  • Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India

  • Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India

  • Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India

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    Anjana Ramanathan, Deepak T. A., Sowmya Krishna, Sindhu Ravindra, Himanshu Lakhani. (2016). Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care. Science Journal of Clinical Medicine, 5(4-1), 14-19. https://doi.org/10.11648/j.sjcm.s.2016050401.13

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    ACS Style

    Anjana Ramanathan; Deepak T. A.; Sowmya Krishna; Sindhu Ravindra; Himanshu Lakhani. Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care. Sci. J. Clin. Med. 2016, 5(4-1), 14-19. doi: 10.11648/j.sjcm.s.2016050401.13

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    AMA Style

    Anjana Ramanathan, Deepak T. A., Sowmya Krishna, Sindhu Ravindra, Himanshu Lakhani. Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care. Sci J Clin Med. 2016;5(4-1):14-19. doi: 10.11648/j.sjcm.s.2016050401.13

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  • @article{10.11648/j.sjcm.s.2016050401.13,
      author = {Anjana Ramanathan and Deepak T. A. and Sowmya Krishna and Sindhu Ravindra and Himanshu Lakhani},
      title = {Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care},
      journal = {Science Journal of Clinical Medicine},
      volume = {5},
      number = {4-1},
      pages = {14-19},
      doi = {10.11648/j.sjcm.s.2016050401.13},
      url = {https://doi.org/10.11648/j.sjcm.s.2016050401.13},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.sjcm.s.2016050401.13},
      abstract = {Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treatment in multiple surgeries, speech therapy, and orthodontic treatments over first 18 years of life. Of special interest is etiology, incidence, risk factors and prevention. Better understanding of the embryology and genetics of orofacial clefting is crucial for development of a biologically relevant orofacial cleft classification system. The recent identification of specific genes involved in syndromic and non-syndromic orofacial clefting shows a correlation between both conditions with an overlapping genetic basis. However, it has limited application with screening of specific candidates, association studies and genome-wide scans in revealing the molecular basis of human clefting. With a heavy bearing of this condition on the patient and the family alike, providing care for these patients and families can be challenging. Surgically repaired clefts have residual deformity due to scarring and abnormal facial development affecting the social integration of the patient. It is of paramount importance, as the first contact professional, the oral physician must be patient, understanding and empathetic and must record a complete prenatal and natal history; urge the parents to seek immediate care and stress the importance of genetic counselling and prenatal diagnosis in the event of a future pregnancy.},
     year = {2016}
    }
    

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    AB  - Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treatment in multiple surgeries, speech therapy, and orthodontic treatments over first 18 years of life. Of special interest is etiology, incidence, risk factors and prevention. Better understanding of the embryology and genetics of orofacial clefting is crucial for development of a biologically relevant orofacial cleft classification system. The recent identification of specific genes involved in syndromic and non-syndromic orofacial clefting shows a correlation between both conditions with an overlapping genetic basis. However, it has limited application with screening of specific candidates, association studies and genome-wide scans in revealing the molecular basis of human clefting. With a heavy bearing of this condition on the patient and the family alike, providing care for these patients and families can be challenging. Surgically repaired clefts have residual deformity due to scarring and abnormal facial development affecting the social integration of the patient. It is of paramount importance, as the first contact professional, the oral physician must be patient, understanding and empathetic and must record a complete prenatal and natal history; urge the parents to seek immediate care and stress the importance of genetic counselling and prenatal diagnosis in the event of a future pregnancy.
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