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Paper · arXiv

Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)

FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis. Using annotations from 124 clinicians across 10 disorders (107 HPO terms) combined with non-syndromic controls, we generated 3D facial meshes (478 landmarks) from 2D images and trained a hierarchical PointNet-based pipeline with cascading classification and feature elimination. The best models, incorporating 3D meshes, facial outline, and demographic metadata, achieved AUROCs between ~0.55 and ~0.89, with higher performance at parent nodes than leaf terms. External validation showed variable generalizability across disorders. Results demo...

AuthorsFabio Hellmann, Alexander Hustinx, Benjamin D. Solomon et al.
Primary categorycs.CV
Published6 July 2026
Last updated at source19 August 2026
cs.CVcs.AIcs.LG
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