Embryology, Etiology, Epidemiology and Prevention of Orofacial Clefts • HRB4094



Lucimara Teixeira das Neves





(per week)
(per week)
(per week)
Duration Total
8h 1h 1h 6 weeks


1) To present, within the most accepted theories about prenatal craniofacial growth and development, the time and mechanism of formation and coalescence of facial processes with emphasis on discussions about the mechanisms of formation of the middle third of the face;   
2) To analyze, based on the current literature, the genetic and environmentalfactors involved in the occurrence of orofacial clefts. Especially highlighting candidate genes and their relationship with possible environmental factors in the etiology of craniofacial malformations. In addition, it aims to discuss current epidemiological data on cleft lip and palate; 
3) Offer knowledge that allows the graduate student to have a competent analysis of the different factors that contribute to the occurrence of malformations and the discussion about the possibilities of preventive action. 



Knowledge of the embryological, etiological and epidemiological aspects related to orofacial clefts is essential in the different areas of study for these malformations, especially considering population variations and preventive surveillance programs.

Knowledge about the embryology of the face is essential for a correct understanding of the biological and molecular mechanisms that can lead to the occurrence of cleft and for the discussion of the etiological factors that surround this anomaly.

The discipline must be considered as a prerequisite for the study of orofacial cleft and their effects in any context of the rehabilitation process. 



Craniofacial development in the embryonic and fetal period – with emphasis on the development of the middle third of the face 
Mandibular and maxillary formation
Deficiency in coalescence and / or fusion of embryonic facial processes   
Deficiency in coalescence and / or fusion of palatal processes  

Discussion of the “classification of cleft lip and palate” based on embryology 
Concepts and principles of epidemiology 
The main records of congenital anomalies and their effectiveness 
Incidence and prevalence of malformations in the population

Etiology of clefts: Syndromic and non-syndromic 
Genetic factors in the etiology of orofacial clefts  
Environmental factors in the etiology of orofacial clefts (teratogenesis)

Prevention of craniofacial malformations 



Freitas JA, das Neves LT, de Almeida AL, et al. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP)–Part 1: overall aspects. J Appl Oral Sci. 2012 Feb;20(1):9-15.

Eppley BL, Van Aalst JA, Robey A, Havlik RJ, Sadove AM. The spectrum of orofacial clefting. Plast Reconstr Surg 2005; 115(7):101-4.
Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 2005; 15(3):270-8.

Kousa YA, Schutte BC. Kousa YA, Schutte BC.Toward an orofacial gene regulatory network. Dev Dyn. 2016 Mar;245(3):220-32.

Olasoji HO, Ukiri OE, Yahaya A. Incidence and aetiology of oral clefts: a review. Afr J Med Sci 2005; 34(1):1-7.

Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005; 5(7):699-722.

Holzinger ER, Li Q, Parker MM et al. Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. Mol Genet Genomic Med. 2017 Aug 9;5(5):570-579.

Silva Filho OG, Freitas JAS. Caracterização morfológica e origem embriológica. In: Trindade IEK, Silva Filho OG (coord.). Fissuras labiopalatinas: uma abordagem interdisciplinar. São Paulo: Editora Santos, 2007. p. 17-49.

Suga M, Hayashi Y, Furue MK. In vitro models of cranial neural crest development toward toxicity tests: frog, mouse, and human. Oral Dis. 2016 Jun 14. doi: 10.1111/odi.12523.

Sadler T.W. Embriologia Médica. Editora Lippincott, 2015.

Suzuki A, Sangani DR, Ansari A, Iwata J. Molecular mechanisms of midfacial developmental defects. Dev Dyn. 2016 Mar;245(3):276-93.

World Health Organization. Global strategies to reduce the health-care burden of craniofacial anomalies: report of who meetings on International colaborative research on craniofacial anomalies.Geneva: Who Graphics; 2002.

World Health Organization. Addresing the global challenges of craniofacial anomalies. Geneva: report of a who meetings on international collaborative research on craniofacial anomalies. Geneva: Who Graphics; 2004.

Vieira AR. Unraveling human cleft lip and palate research. J Dent Res. 2008 Feb;87(2):119-25.



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Seção de Pós-Graduação HRAC-USP

Horário de atendimento: de segunda a sexta-feira, das 8h às 18h (exceto feriados) | e-mail: secpghrac@usp.br