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Comparing 2D and 3D representations for face-based genetic syndrome diagnosis


Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic syndromes and computer-assisted facial phenotyping is a promising approach to assist diagnosis. Most previous approaches to automated face-based syndrome diagnosis have analyzed different datasets of either 2D images or surface mesh-based 3D facial representations, making direct comparisons of performance challenging. In this work, we developed a set of subject-matched 2D and 3D facial representations, which we then analyzed with the aim of comparing the performance of 2D and 3D image-based approaches to computer-assisted syndrome diagnosis. This work represents the most comprehensive subject-matched analyses to date on this topic. In our analyses of 1907 subject faces representing 43 different genetic syndromes, 3D surface-based syndrome classification models significantly outperformed 2D image-based models trained and evaluated on the same subject faces. These results suggest that the clinical adoption of 3D facial scanning technology and continued collection of syndromic 3D facial scan data may substantially improve face-based syndrome diagnosis.

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Fig. 1: Frontal renderings of the same example subject surface scan captured using different distances between the camera and the subject face.
Fig. 2: Subject demographic histogram.
Fig. 3

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Data availability

The 3D facial scan data used in this work is available through application to the Face Base consortium (





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This research was funded by the National Institutes of Health (U01-DE024440), the Canada Research Chairs program, as well as by the River Fund at Calgary Foundation.

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Authors and Affiliations



(1) Research Project: A. Conception, B. Organization, C. Execution; (2) Statistical Analysis: A. Design, B. Execution, C. Review and Critique; (3) Manuscript: A. Writing of the First Draft, B. Review and Critique. JJB: 1A, 1B, 1C, 2A, 2B, 3A. DA: 1B, 1C, 2C, 3B. DK: 1B, 1C, 2C, 3B. ODK: 1A, 1B, 3B. FPJB: 1A, 1B, 3B. RAS: 1A, 1B, 3B. BH: 1A, 1B, 2A, 2C, 3B. NDF: 1A, 1B, 2A, 2C, 3B.

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Correspondence to Jordan J. Bannister.

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The authors declare no competing interests.

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This study was conducted in accordance with the Declaration of Helsinki. Ethics approval was granted by the Conjoint Health Research Ethics Board (CHREB# REB14-0340_REN4) at the University of Calgary. Informed consent informed was obtained from all subjects. Consent for the publication of facial images was obtained for the example subject shown in Figs. 1 and 3.

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Bannister, J.J., Wilms, M., Aponte, J.D. et al. Comparing 2D and 3D representations for face-based genetic syndrome diagnosis. Eur J Hum Genet 31, 1010–1016 (2023).

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