RDFace: A Benchmark Dataset for Rare Disease Facial Image Analysis under Extreme Data Scarcity and Phenotype-Aware Synthetic Generation

arXiv:2604.03454v1 Announce Type: cross Abstract: Rare diseases often manifest with distinctive facial phenotypes in children, offering valuable diagnostic cues for clinicians and AI-assisted screening systems. However, progress in this field is severely limited by the scarcity of curated, ethically sourced facial data and the high similarity among phenotypes across different conditions. To address these challenges, we introduce RDFace, a curated benchmark dataset comprising 456 pediatric facial