Get access

Perspectives and challenges in advancing research into craniofacial anomalies


  • Timothy C. Cox,

    Search for more papers by this author
    • Timothy Cox, Ph.D. is Professor and Laurel Endowed Chair in Pediatric Craniofacial Research in the University of Washington's Department of Pediatrics (Division of Craniofacial Medicine) and the Center for Developmental Biology and Regenerative Medicine at Seattle Children's Research Institute. His research employs animal models to understand the genetic and epigenetic contributions to craniofacial development and dysmorphology.
  • Daniela V. Luquetti,

    Search for more papers by this author
    • Daniela Luquetti, M.D., Ph.D. is a medical geneticist and epidemiologist in the Craniofacial Center at Seattle Children's Hospital and the Division of Craniofacial Medicine, Department of Pediatrics, University of Washington. Her research includes studying potential genetic and non-genetic causes of birth defects.
  • Michael L. Cunningham

    Search for more papers by this author
    • Michael Cunningham, M.D., Ph.D. is the Jean Renny Professor of Craniofacial Medicine in the University of Washington Department of Pediatrics and Medical Director of the Seattle Children's Craniofacial Center. For over 20 years Dr. Cunningham's career has focused on the care of children with craniofacial conditions as well as basic and translational research to identify causes and treatments.

Correspondence to: Timothy C. Cox, Ph.D., c/o Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Building 1, M/S C9S-5, 1900 9th Avenue, Seattle, WA 98101. E-mail:


Development of the craniofacial region is a remarkably complex and tightly orchestrated process. It is therefore not surprising that genetic and environmental insults frequently result in craniofacial anomalies. Nonetheless, our knowledge of their etiology and pathogenesis is still scarce, limiting our efforts at prevention. Furthermore, few standardized protocols have been developed to guide clinical and surgical interventions. In this Issue of the Seminars, reviews on the most recent research advances on craniofacial conditions, from genomics and epigenetics to ontology and medical care are discussed with emphasis on the most common anomalies of the craniofacial region: orofacial clefts, craniosynostosis, craniofacial microsomia, facial dysostosis, Robin sequence, jaw and dentition anomalies, and anterior neural tube defects. Phenotypic variability and the importance of detailed characterization using standardized terminology to better distinguish between phenotypes, new technologies (and their limitations) for genetic diagnosis, and the use of mouse models to study these conditions in both their complex phenotypic and genetic aspects are highlighted. © 2013 Wiley Periodicals, Inc.