GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

ABSTRACT: The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestr

SUBMITTER: Lesmann H 

PROVIDER: S-EPMC10371103 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature