About this Research Topic

Background

Craniofacial abnormalities encompass a diverse group of congenital disorders that profoundly impact the development of the skull and facial bones, leading to functional and aesthetic challenges. These conditions are prevalent worldwide, affecting millions of individuals and causing significant morbidity and mortality. These abnormalities not only affect physical appearance but also impair vision, hearing, breathing, eating, and speaking, leading to psychosocial and quality of life issues. Managing craniofacial abnormalities requires a multidisciplinary approach and further research to uncover the genetic, molecular, and environmental factors contributing to their development, enabling early detection, accurate diagnosis, and personalized treatment to enhance patient outcomes and well-being.

In recent years, researchers have made remarkable discoveries regarding the molecular and cellular mechanisms underlying craniofacial development and the factors that contribute to these abnormalities. Despite these achievements, there are still challenges and knowledge gaps. One major limitation is the need for a more comprehensive understanding of the complex interplay between genetic variations, epigenetic modifications, and environmental influences in craniofacial abnormalities. Moreover, further investigation is needed to explore how disruptions in processes such as cell signaling, adhesion, and migration are involved in deformity cases. Studying key signaling molecules, such as growth factors, cytokines, and morphogens, and their interactions during craniofacial development and how perturbations in these pathways lead to deformities, holds great promise for future breakthroughs. Ultimately, this will overall pave the way for advancements in diagnostic techniques and design of novel and effective therapeutic strategies.

This Research Topic therefore aims to provide an overview of recent findings in the field, focusing on the molecular and cellular mechanisms of craniofacial development, the genetic and environmental factors involved, and the latest diagnostic and therapeutic approaches.

The editors welcome different article types including Original Research articles, Reviews, and Perspectives that cover a range of topics related to the molecular basis of craniofacial abnormalities, including but not limited to:

• Molecular and cellular mechanisms of craniofacial development and abnormalities

• Genetic and epigenetic factors that contribute to craniofacial abnormalities.

• Environmental and nutritional factors that affect craniofacial development and abnormalities.

• Novel genomic and proteomic technologies for understanding the molecular basis of craniofacial abnormalities.

• Emerging therapeutic approaches for craniofacial abnormalities, such as gene therapy and CRISPR/Cas9-based gene editing

• Clinical management and outcomes of craniofacial abnormalities

A full list of accepted article types, including descriptions, can be found at this link.

Keywords: Craniofacial abnormalities, Frontonasal hypoplasia, frontonasal primordial patterning, Midline facial clefts, Single-cell RNA-seq, Gene regulatory network (GRN)

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