Automated syndrome diagnosis by three-dimensional facial imaging.

ABSTRACT:

Purpose

Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30-40% of known genetic syndromes. Here, we determine whether syndromes can be diagnosed from 3D images of human faces.

Methods

We analyzed variation in three-dimensional (3D) facial images of 7057 subjects: 3327 with 396 different syndromes, 727 of their relatives, and 3003 unrelated, unaffected subjects. We developed and tested machine learning and parametric approaches to automated syndrome diagnosis using 3D facial images.

Results

Unrelated, unaffected subjects were correctly classified with 96% accuracy. Considering both syndromic and unrelated, unaffected subjects together, balanced accuracy was 73% and mean sensitivity 49%. Excluding unr

SUBMITTER: Hallgrimsson B 

PROVIDER: S-EPMC7521994 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature