🤖 AI Summary
This work exposes significant biases in mainstream facial analysis techniques when applied to individuals with Down syndrome (DS), particularly in gender classification, age estimation, and facial attribute labeling—posing implicit clinical discrimination risks. To address this, we introduce the first explainable facial analysis system specifically designed for DS screening. It provides the first systematic evaluation of cross-center generalizability and clinical interpretability of multiple models for fine-grained DS facial phenotyping. Methodologically, the framework integrates deep feature extraction, keypoint-guided attention mechanisms, and few-shot transfer learning to effectively mitigate data scarcity. Evaluated on a multi-center dataset, our system achieves a mean accuracy of 92.3%, substantially outperforming conventional morphometric approaches. This work establishes a novel paradigm and a deployable technical pathway for AI-assisted diagnosis of rare genetic disorders.