Oro-Facial Syndromes: An Approach Towards Etiopathogenesis, Diagnosis and Management – A Systematic Review

Shally Khanna, Narendra Nath Singh, V.R Brave, Gadiputi Sreedhar, Anupam Purwar, Shalni Gupta


Currently, there are more than 4,000 genetic disorders identified till date, of which orofacial syndromes form a considerable part. Genetic factors either in isolation or in combination with various environmental factors plays role in causation of these craniofacial anomalies. It becomes a challenge for a dental practitioner to diagnose and manage orofacial syndromes due to their complexity of multisystem involvement. To simplify it classification of orofacial syndromes based on oral manifestations have been suggested. Further, step by step approach of establishing diagnosis including various prenatal and postnatal methods in light of their advantages and disadvantages has been discussed in the present paper. Number of syndromes has been reported till date, unfortunately scientists and doctors are unable to deduce ways to treat most of these. However, the role of symptomatic multidisciplinary management, advanced gene therapy and psychological support to the family members is indispensible. Considering these important areas, attempt has been made through this paper to comprehensively review the aetiology, classification, diagnosis, and management of orofacial syndromes for their better understanding. 


Pathologic Processes; Diseases; Syndrome; Symptom Cluster; Anomaly; Genetic; Disorders; Chromosome; Genes.

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