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Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in sequencing technology. In order to study phenotypes systematically, large-scale projects with standardized objective assessment across populations are considered necessary. The report of the 2006 Human Variome Project meeting (Cotton et al, 2007) recommended documentation of phenotypes through electronic means by collaborative groups of computational scientists and clinicians using standard, structured descriptions of disease-specific phenotypes. In this report, we describe progress over the past decade in three-dimensional (3D) digital imaging and shape analysis of the face, and future prospects for large-scale facial phenotyping. Illustrative examples are given throughout using a collection of 1,107 3D face images of healthy controls and individuals with a range of genetic conditions involving facial dysmorphism.

Original publication




Journal article


Human mutation

Publication Date





817 - 825


Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, UK.


Face, Humans, Imaging, Three-Dimensional, Anthropometry, Phenotype, Algorithms, Models, Biological, Reference Standards, Congenital Abnormalities