Please enter verification code
Chromosomal Abnormalities Associated With Cleft Lip and Cleft Palate
Science Journal of Clinical Medicine
Volume 5, Issue 4-1, July 2016, Pages: 64-69
Received: Mar. 17, 2016; Accepted: Jun. 6, 2016; Published: Jun. 21, 2016
Views 4920      Downloads 170
Ajay Ajit Pala, General Dentistry, Maharaja Krishnakumarsinhji Bhavnagar University, Bhavnagar, India
Neha Rajkumar Sonvanshi, General Dentistry, Maharaja Krishnakumarsinhji Bhavnagar University, Bhavnagar, India
Article Tools
Follow on us
Aim and Objective: To enumerate the various chromosomal abnormalities which may lead to cleft lip and cleft palate and to know about their prevention which can prove better than cure and to know the cure as well in cases where the stage of prevention has surpassed. Materials: Various reference articles regarding the chromosomal abnormalities are referred to know about the various categories of chromosomal abnormalities, their etiologies, early diagnosis, prevention and treatment plans for the same. Results: the article enumerates the theoretical part of the topic in detail but has not been conducted practically because of which it doesn’t give the idea of prevalence amongst any particular type of regional population. Theoretical part of the article explains all the anomalies, risk factors, preventive measures which can further be used as a base to conduct a practical study. Conclusion: The article is an attempt to understand the abnormalities associated with cleft lip and cleft palate at genetic level. This gives a scenario of what are the conditions causing cleft lip and cleft palate and how important it is to diagnose this at an early age to provide further problems.
Chromosomal Abnormalities, Monogenic Syndrome, Chromosomal Syndrome, Velocardiofacial Syndrome, Median Facial Dysplasia
To cite this article
Ajay Ajit Pala, Neha Rajkumar Sonvanshi, Chromosomal Abnormalities Associated With Cleft Lip and Cleft Palate, Science Journal of Clinical Medicine. Special Issue: Clinical Conspectus on Cleft Deformities. Vol. 5, No. 4-1, 2016, pp. 64-69. doi: 10.11648/j.sjcm.s.2016050401.21
Copyright © 2016 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License ( which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Orofacial Clefts: A Worldwide Review of the Problem Volume 2013 (2013), Article ID 348465, P. Agbenorku
G. L. Wehby and J. C. Murray, “Folic acid and orofacial clefts: a review of the evidence,” Oral Diseases, vol. 16, no. 1, pp. 11-19, 2010. View at Publisher •
P. Mossey and J. Little, “Addressing the challenges of cleft lip and palate research in India,” Indian Journal of Plastic Surgery, vol. 42, no. 1, pp. S9-S18, 2009.
Cleft Lip and Palate,
B. J. Leonard and J. D. Brust, “Self-concept of children and adolescents with cleft lip and/or palate,” Cleft Palate-Craniofacial Journal, vol. 28, no. 4, pp. 347-353, 1991.
E. Ellis III, “Management of patients with orofacial clefts,” in Contemporary Oral and Maxillofacial Surgery, pp. 623-645, Mosby, St. Louis, Mo, USA, 4th edition, 2003.
F. Blanco-Davila, “Incidence of cleft lip and palate in the northeast of Mexico: a 10-year study,” The Journal of Craniofacial Surgery, vol. 14, no. 4, pp. 533-537, 2003.
T. D. Gregg, D. Boyd, and A. Richardson, “The incidence of cleft lip and palate in Northern Ireland from 1980-1990,” British Journal of Orthodontics, vol. 21, no. 4, pp. 387-392, 1994.
T. Hartridge, H. M. Illing, and J. R. Sandy, “The role of folic acid in oral clefting,” British Journal of Orthodontics, vol. 26, no. 2, pp. 115-120, 1999.
K. J. Rothman, L. L. Moore, M. R. Singer, U. S. D. T. Nguyen, S. Mannino, and A. Milunsky, “Teratogenicity of high vitamin A intake,” The New England Journal of Medicine, vol. 333, no. 21, pp. 1369-1373, 1995.
White Memorial Medical Center (Adventist Health) Cleft Palate Program,
J. C. Murray and B. C. Schutte, “Cleft palate: players, pathways, and pursuits,” The Journal of Clinical Investigation, vol. 113, no. 12, pp. 1676-1678, 2004.
L. Scapoli, J. Marchesini, M. Martinelli et al., “Investigation of the W 185 X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients,” American Journal of Medical Genetics, vol. 127, no. 2, p. 211, 2004.
R. Venkatesh Syndromes and anomalies associated with cleft Indian J Plast Surg. 2009 Oct; 42 (Suppl): S51-S55.
M Silvana Horenstein, MD Assistant Professor, Department of Pediatrics, University of Texas Medical School at Houston; Medical Doctor Consultant, Legacy Department, Best Doctors, Inc
American Cleft Palate-Craniofacial Association, Parameters for Evaluation and Treatment of Patients with Cleft Lip/Palate or other Craniofacial Anomalies, American Cleft Palate-Craniofacial Association, Chapel Hill, NC, USA, 2009
Utah Department of Health: Striving to Prevent Birth Defects, Orofacial Clefts at a Glance,
J. Brailsford, D. D. Smith, A. K. Lizarraga, and L. E. Bermudez, “Surgical management of patients with cleft palate,” OR Nurse, vol. 4, no. 3, pp. 16-25, 2010.
WHO. Reports, Human Genetics Programme, “Management of non-communicable diseases. International collaborative research on craniofacial anomalies,” in Global Strategies Towards Reducing the Health Care Burden of Craniofacial Anomalies, P. A. Mossey, R. Munger, J. C. Murray, and W. C. Shaw, Eds., WHO, Geneva, Switzerland, 2002.
M. M. Yazdy, A. R. Autry, M. A. Honein, and J. L. Frias, “Use of special education services by children with orofacial clefts,” Birth Defects Research A, vol. 82, no. 3, pp. 147-154, 2008.
H. McNulty, “Folate requirements for health in different population groups,” British Journal of Biomedical Science, vol. 52, no. 2, pp. 110-119, 1995.
“Global strategies to reduce the health-care burden of craniofacial anomalies,” Report of WHO Meetings on International Collaborative Research on Craniofacial Anomalies, WHO, Geneva, Switzerland, 2001.
F. A. Malek, K. U. Möritz, J. Fanghänel, and V. Bienengräber, “Sex-related differences in procarbazine-induced cleft palate and microgenia and the anti-teratogenic effect of prenatal folic acid supplementation in rats,” Annals of Anatomy, vol. 185, no. 5, pp. 465-470, 2003.
J. Mulinare, J. D. Erickson, L. M. James, et al., “Does periconceptional use of multivitamins reduce the occurrence of birth defects?” American Journal of Epidemiology, vol. 141, supplement 3, 1995.
R. Munger, P. Romitti, N. West, et al., “Maternal intake of folate, vitamin B-12, and zinc and risk of orofacial cleft birth defects,” American Journal of Epidemiology, vol. 145, supplement 30, 1997.
G. M. Shaw, V. Nelson, S. L. Carmichael, E. J. Lammer, R. H. Finnell, and T. H. Rosenquist, “Maternal periconceptional vitamins: interactions with selected factors and congenital anomalies?” Epidemiology, vol. 13, no. 6, pp. 625-630, 2002.
A. E. Czeizel, L. Tímár, and A. Sárközi, “Dose-dependent effect of folic acid on the prevention of orofacial clefts,” Pediatrics, vol. 104, no. 6, p. e66, 1999.
M. M. Werler, C. Hayes, C. Louik, S. Shapiro, and A. A. Mitchell, “Multivitamin supplementation and risk of birth defects,” American Journal of Epidemiology, vol. 150, no. 7, pp. 675-682, 1999.
P. D. Hodgkinson, S. Brown, D. Duncan et al., “Management of children with cleft lip and palate: a review describing the application of multidisciplinary team working in this condition based upon the experiences of a regional cleft lip and palate centre in the United Kingdom,” Fetal and Maternal Medicine Review, vol. 16, no. 1, pp. 1-27, 2005.
L. Bristow and S. Bristow, Making Faces: Logan's Cleft Lip and Palate Story, Pulsus Group, Ontario, Canada, 2007.
M. L. Speltz, G. C. Armsden, and S. S. Clarren, “Effects of craniofacial birth defects on maternal functioning postinfancy,” Journal of Pediatric Psychology, vol. 15, no. 2, pp. 177-196, 1990.
M. M. Tolarová, D. Poulton, M. M. Aubert, et al., “Pacific craniofacial team and cleft prevention program,” Journal of the California Dental Association, vol. 34, no. 10, pp. 823-830, 2006.
A. Habel and M. Lees, “Folic acid in the prevention of cleft lip and palate,” CLAPA News, no. 12, 2000,
Science Publishing Group
1 Rockefeller Plaza,
10th and 11th Floors,
New York, NY 10020
Tel: (001)347-983-5186