An interactive atlas of three-dimensional syndromic facial morphology

J David Aponte; Jordan J Bannister; Hanne Hoskens; Harold Matthews; Kaitlin Katsura; Cassidy Da Silva; Tim Cruz; Julie H M Pilz; Richard A Spritz; Nils D Forkert; Peter Claes; Francois P Bernier; Ophir D Klein; David C Katz; Benedikt Hallgrímsson

doi:10.1016/j.ajhg.2023.11.011

An interactive atlas of three-dimensional syndromic facial morphology

Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011.

Authors

Affiliations

¹ Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; DeepSurface AI Inc., Calgary, AB, Canada.
² DeepSurface AI Inc., Calgary, AB, Canada.
³ Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
⁴ Department of Human Genetics, KU Leuven, Leuven, Belgium.
⁵ Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
⁶ Department of Pediatrics and the Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
⁷ Department of Radiology and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
⁸ Department of Human Genetics, KU Leuven, Leuven, Belgium; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.
⁹ Department of Medical Genetics and the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
¹⁰ Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA; Department of Pediatrics, Cedars-Sinai Guerin Children's, Los Angeles, CA, USA.
¹¹ Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: bhallgri@ucalgary.ca.

PMID: 38181734
PMCID: PMC10806736 (available on 2024-07-04)
DOI: 10.1016/j.ajhg.2023.11.011

Abstract

Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes. Users can visualize syndrome facial appearance estimates quantified from data and easily compare craniofacial phenotypes of different syndromes. Our application also provides a map of morphological similarity between a target syndrome and other syndromes. Finally, users can upload 3D facial scans of individuals and compare them to our syndrome atlas estimates. In summary, we provide an interactive reference for the craniofacial phenotypes of syndromes that allows for precise, individual-specific comparisons of dysmorphology.

Keywords: 3D facial imaging; diagnosis; genetic disease; human; morphometrics; penetrance; visualization.

MeSH terms

Face*
Facies
Humans
Phenotype
Software*
Syndrome

Grants and funding

U01 DE024440/DE/NIDCR NIH HHS/United States