The Etiology and Pathogenesis of Craniomaxillofacial Birth Defects

Formation of human skull and face is a highly complicated morphogenetic process involving hundreds of genes affecting coordinated patterning, proliferation, and differentiation of tissues with numerous embryological origins.

Craniofacial birth defects such as orofacial clefts, craniosynostosis, and microtia, compose one third of the congenital birth defects. Recently, new techniques like high-throughput sequencing have resulted in the identification of many new causative disease genes and functional experiments have clarified the mechanisms of action, leading to novel insights into craniofacial malformations.

Nowadays, genes, variants, regulatory factors, and pathways affecting craniofacial development still have not been illustrated clearly. With more and more new techniques applied, the complex genetic factors leading to craniofacial birth defects could be further investigated. Additionally, some studies suggested that other factors including viral infection, medicine taking, and teratogen combine with genetic factors to increase the risks of craniofacial birth defect. However, more studies are needed to explore the mechanisms and regulatory network of the factors causing craniofacial birth defects. In brief, new techniques, analysis methods, and functional studies could be conducted to address the above-mentioned problems.

This Research Topic welcomes original research articles, case reports, and review articles covering the following topics:

• The etiology of craniofacial birth defects (genetic factors, viral infection, medicine taking, teratogen, etc.)
• The pathogenesis of craniofacial birth defects
• The mechanism of craniofacial birth defects
• Regulatory factors affecting craniofacial birth defects
• The etiology of orofacial clefts
• Causing gene and genetic variants of orofacial clefts eg. Mutations in IRF6 and GRHL3 causing Van der Woude syndrome (VWS)