For all intents and purposes, craniofacial development is initiated as soon as the anteroposterior axis of an embryo is established. Although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information than other tissues of the body. New studies have further clarifi ed the contribution of ciliary epithelia as a source of patterning information for the face. In this paper, we review the craniofacial anomalies in patients with ciliopathies, in which orofacial region is a pivotal recognition of the disorder. Also, a case report of a patient with suspected ciliopathy has been presented along with a logical approach for diagnosis of such disorders.

The Ciliary disorders are a group of clinically and genetically overlapping disorders, manifesting as syndromes, whose patho-physiology arises due to defective ciliary function including its organelles. These are antenna-like organelles are present in the apical surface of numerous cell types in a variety of tissues and organs, in humans, currently under research in medico genetic field.1 During organogenesis, although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information present when compared to other tissues of the body.2 Newer studies have further indicated the importance of ciliary epithelia as a source of patterning information for the tissues in or-facial region. In this article, we propose a research in patients with craniofacial ciliopathies linking to origin of cancers in oro-facial region.