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Orofacial syndromes: a better understanding of the etiopathogenesis, diagnosis and management

This summary is based on the article published by the International Journal of Oral and Maxillofacial Pathology: Orofacial Syndromes: An Approach Towards Etiopathogenesis, Diagnosis and Management. A Systematic Review (January 2013)


Currently, there are more than 4,000 genetic disorders identified to date, of which orofacial syndromes form a considerable part. Genetic factors either in isolation or in combination with various environmental factors play an important role in causing these craniofacial anomalies. 

It becomes a challenge for the dental practitioner to diagnose and manage orofacial syndromes due to the complexity of their multi-system involvement. 

Purpose of the Review

  • The paper presents a classification of orofacial syndromes based on oral manifestations and discusses a step-by-step approach to establishing diagnosis, including various prenatal and postnatal methods in light of their advantages and disadvantages.
  • The role of symptomatic multidisciplinary management, advanced gene therapy and psychological support is indispensable.


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