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The Genetics of Facial Morphology

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This paper discusses recent advances in methodology for deriving accurate and precise facial traits, with the goal of improving quantitative diagnoses, treatment, management of craniofacial syndromes, and eventually, the goal of modelling the human face from deoxyribonucleic acid.


Human facial morphology broadly encompasses several distinct facial structures that alone and together contain enormous variations which contribute to our physical identities as both individuals and members of families and populations. The human face comprises an assemblage of multifactorial complex traits, with clear genetic components and known environmental factors playing key roles in its development and maturation throughout life. Current understanding of the genes and pathways pertaining to normal facial development and morphology comes largely from research on craniofacial malformations in humans as well as animal models. Recent advances in methodology for deriving accurate and precise facial traits have allowed for several large genomic studies that have provided new insights into the heritability and genes involved in normal facial variation. Continued research on the genetics of facial morphology will improve quantitative diagnosis, treatment and management of craniofacial syndromes, perhaps enabling us to one day model the human face from deoxyribonucleic acid (DNA). 

Date Published: January 1, 2017