Our goal

This atlas of syndromic facial morphology is the result a large body of collaborating scientists and medical geneticists. We hope to provide a reference to syndromic morphology that allows you visualize syndromes at a desired age, masculinity/femininity, and severity through the use of a statistical model trained on thousands of syndromic and non-syndromic faces. This may help show the heterogeneity that syndromes often present with. We also provide skin texture for reference, but caution that it is independent of the statistical model that makes the facial shapes.

What are gestalts and comparisons?

To visualize syndromes, the gestalt tab has 94 selectable syndromes with modifiable age, masculinity/femininity, and severity. You can also change the texture type to see the morphology with differing skin tones. The comparison tab allows you to compare two age matched syndromes to each other. When you select a syndrome pair, you'll see a heatmap that uses color to represent the local shape differences from the reference syndrome to the comparison syndrome. Blues are areas that are relatively smaller in the comparison syndrome, while reds are areas that are relatively larger in the comparison syndrome.

Limitations

The sample used in this work consists of mostly North American individuals and may not generalize well to populations outside of that demographic. If you are interested in more references for syndromic morphology, please see the Elements of Morphology database for characteristic syndromic traits. If you are interested in syndromic presentations in other ethnicities please see the Atlas of Human Malformation Syndromes in Diverse Populations.

Contribute to this project!

Projects like these benefit from the cooperation of the medical science community. Please do not hesitate to reach out to our group if you are willing and able to provide new data for inclusion in this project. Contact details for Benedíkt Hallgrimsson and J. David Aponte can be found at this website. A link to the paper describing this work will be posted here when it is published.