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

Anjana Ramanathan; Deepak T. A.; Sowmya Krishna; Sindhu Ravindra; Himanshu Lakhani

doi:doi:10.11648/j.sjcm.s.2016050401.13

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

Anjana Ramanathan, Deepak T. A., Sowmya Krishna, Sindhu Ravindra, Himanshu Lakhani

Published in Science Journal of Clinical Medicine (Volume 5, Issue 4-1)

Received: 2 January 2016 Accepted: 7 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.

Published in	Science Journal of Clinical Medicine (Volume 5, Issue 4-1) This article belongs to the Special Issue Clinical Conspectus on Cleft Deformities
DOI	10.11648/j.sjcm.s.2016050401.13
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), 2016. 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.
[4]	Leek I. The geographical distribution of neural tube defects and oral clefts. Br Med Bull 1984; 40: 390-5.
[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.
[9]	Hecht JT, Yang P, Michels VV, et al. Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet 1991; 49: 674-81.
[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.
[11]	Marazita ML, Goldstein AM, Smalley SL, et al. Cleft lip with or without cleft palate: reanalysis of a three-generation family study from England. Genet Epidemiol 1986; 3: 335-42.
[12]	Chung CS, Bixler D, Watanabe T, et al. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet 1986; 39: 603-ll.
[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.
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[24]	Venkatesh R. Syndromes and anomalies associated with cleft. Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India. 2009; 42 (Suppl): S51-S55. doi: 10.4103/0970-0358.57187.
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APA Style

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://article.sciencepublishinggroup.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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TY  - JOUR
T1  - Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care
AU  - Anjana Ramanathan
AU  - Deepak T. A.
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AU  - Sindhu Ravindra
AU  - Himanshu Lakhani
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DO  - 10.11648/j.sjcm.s.2016050401.13
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JF  - Science Journal of Clinical Medicine
JO  - Science Journal of Clinical Medicine
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UR  - https://doi.org/10.11648/j.sjcm.s.2016050401.13
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.
VL  - 5
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Author Information

Anjana Ramanathan

Department of Oral Medicine and Radiology, Vokkaligara Sangha Dental College and Hospital, Bangalore, India
Deepak T. A.

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

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

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

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

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APA Style

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://article.sciencepublishinggroup.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}
}

Copy | Download

TY  - JOUR
T1  - Cleft Lip and Cleft Palate: A Comprehensive Understanding of Etiology, Pathogenesis and an Oral Physician’s Role in Comprehensive Care
AU  - Anjana Ramanathan
AU  - Deepak T. A.
AU  - Sowmya Krishna
AU  - Sindhu Ravindra
AU  - Himanshu Lakhani
Y1  - 2016/04/16
PY  - 2016
N1  - https://doi.org/10.11648/j.sjcm.s.2016050401.13
DO  - 10.11648/j.sjcm.s.2016050401.13
T2  - Science Journal of Clinical Medicine
JF  - Science Journal of Clinical Medicine
JO  - Science Journal of Clinical Medicine
SP  - 14
EP  - 19
PB  - Science Publishing Group
SN  - 2327-2732
UR  - https://doi.org/10.11648/j.sjcm.s.2016050401.13
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.
VL  - 5
IS  - 4-1
ER  -

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