GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

ABSTRACT: Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can support physicians in recognizing these patterns by associating facial phenotypes with the underlying syndrome through training on thousands of patient photographs. However, this 'supervised' approach means that diagnoses are only possible if the disorder was part of the training set. To improve recognition of ultra-rare disorders, we developed GestaltMatcher, an encoder for portraits that is based on a deep convolutional neural network. Photographs of 17,560 patients with 1,115 rare disorders were used to define a Clinical Face Phenotype Space, in which distances between cases define syndromic similarity. Here we show that patients can be matched to others with the same molecular diagnosis even

SUBMITTER: Hsieh TC 

PROVIDER: S-EPMC9272356 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature