Advances in Craniofacial Genetics
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 September 2025 | Viewed by 410
Special Issue Editor
2. Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 115 27 Athens, Greece
Interests: medical genetics; orofacial genetics; craniofacial genetics; neurogenetics; oral cancer; bioethics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Craniofacial genetics has a long past but a short history. At least since Hippocrates, the perceived cranial and facial resemblance between children and their parents was noted as an inherited characteristic. In recent decades, accumulating evidence from biomedical research in humans and in animal models has suggested that craniofacial morphogenesis is multifactorial, both influenced by environmental factors and orchestrated by a multitude of genes. Subtle variations in gene expression and protein function result in a spectrum of combinatorial possibilities and an extensive diversity of craniofacial phenotypes. Furthermore, patients may have isolated craniofacial anomalies or present with a constellation of features suggestive of specific genetic syndromes that require the collaboration of experts in various disciplines. Recent advances in clinical and molecular genetic studies have produced a plethora of DNA sequence variants, and current research deciphering the epigenetic regulation mechanisms and gene–environmental interactions, shedding new light on the developmental processes of normal and abnormal craniofacial morphogenesis.
The aim of this Special Issue of Genes on the topic of the “Advances in Craniofacial Genetics” lies at the crossroads of genetics, craniofacial surgery, neurosurgery, oral maxillofacial surgery, neurology, ophthalmology, otorhinolaryngology, oral medicine, dentistry, developmental pediatrics, dermatology, pathology, and molecular biology, showcasing contributions regarding novel clinical, genetic, and epigenetic research in the exciting fields of craniofacial genetics, orofacial genetics, developmental genetics, and neurogenetics, as well as head and neck cancer genetics. Priority will be mainly given to innovative research works dealing with the following: (i) the genetics (not the clinical aspects) of craniofacial disorders; (ii) evidence of genotype–phenotype causation, (iii) state-of-the art molecular, genetics, and -omics strategies for the identification and exploration of functional aspects of craniofacial causative gene(s); and (iv) the locus and allele heterogeneity of craniofacial disorders.
Dr. Christos Yapijakis
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- craniofacial syndromes
- dysmorphology
- genetics
- epigenetics
- gene–environment interactions
- animal models
- therapeutic protocols
- cranial neural crest
- cleft lip and palate
- auditory–vestibular malformations
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue policies can be found here.