Identifying facial phenotypes of genetic disorders using deep learning

Syndromic genetic conditions, in aggregate, affect 8% of the population1. Many syndromes have recognizable facial features2 that are highly informative to clinical geneticists3–5. Recent studies show that facial analysis technologies measured up to the capabilities of expert clinicians in syndrome identification6–9. However, these technologies identified only a few disease phenotypes, limiting their role in clinical settings, where hundreds of...