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Facial genetics: A brief overview



The face develops very early in gestation and face development is closely related to the cranial neural crest cells. Disruption in early embryological development can lead to wide-ranging effects from subtle neurologic and facial features, which includes asymmetry to significant impact on facial shape with CL/P and craniofacial syndromes.

Heritability studies have provided information on possible genetic and environmental contributions to face shape. However, the sample sizes and inconsistencies in research design and particularly statistical management have yielded mixed results.

From birth to adulthood there are significant body and facial changes. Further work is required to explore the importance of the various biomedical markers and medical conditions (e.g. fasting glucose, cholesterol, asthma and neurological disorders etc.) on the growth of the face, for example, remodeling of the facial skeleton, spatial changes of the constituent parts of the facial skeleton through sutures, condylar and nasal cartilages as well as the soft tissues, neural and vascular networks. The Genome-Wide Association Studies (GWAS) have provided insights into the genetic influences on facial shape.

Impressions of an individual’s health are integral to social interactions and judgements are made on the visual appearance of skin, degree of roundness of the face and facial expression. There has been significant progress in the first 6 years of GWAS and facial genetics. With increased sample sizes, improved understanding of shared genetic influences on human traits and advancement in techniques there is likely to be significant further progress in the next 6 years. Understanding the face will explain “why we look the way we do” a range of normality and abnormality that will be useful in healthcare applications and forensic science.




Born in Liverpool, gained a dental degree in Sheffield (1979) followed by an orthodontic specialist training qualification and MSc in 3D measurement of dental casts (Cardiff, 1984). PhD University of Manchester (1985 – 1993) quantifying orthodontic treatment need and outcome (standards) in the General Dental Services in England and Wales. 1993 to present, Head of Applied Clinical Research and Public Health, Cardiff University.  Best known for developing and implementing the use of the PAR, IOTN and ICON indices and assessing the cost-effectiveness of orthodontic treatment.

To explain facial variation (biological make-up, anatomy, facial surface morphology, growth and function) to inform a fully functioning biomechanical head model which is of value to improve healthcare interventions, improve wellbeing and quantify facial variation for face-wear, facial identification/ forensics and computer interface industries.