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Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology

NCJ Number
Sahin Naqvi; Hanne Hoskens; Franziska Wilke; Seth M. Weinberg; John R. Shaffer; Susan Walsh; Mark D. Shriver; Joanna Wysocka ; Peter Claes
Date Published
August 2022

This article reviews the general understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk.


The article also discusses the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. The authors close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then propose future directions and applications for the field. (Published abstract provided)