A new benchmark dataset of 456 real rare-disease face images demonstrates that phenotype-aware synthetic augmentation with landmark filtering improves AI diagnostic accuracy by up to 13.7% in ultra-low-data regimes.
Artificial intelligence-driven facial image analysis for the early detection of rare diseases: Legal, ethi- cal, forensic, and cybersecurity considerations.AI, 5(3):990– 1010
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RDFace: A Benchmark Dataset for Rare Disease Facial Image Analysis under Extreme Data Scarcity and Phenotype-Aware Synthetic Generation
A new benchmark dataset of 456 real rare-disease face images demonstrates that phenotype-aware synthetic augmentation with landmark filtering improves AI diagnostic accuracy by up to 13.7% in ultra-low-data regimes.