Abstract
Recent deep facial phenotyping methods can support the recognition of genetic syndromes, but patient images are often scarce and unevenly distributed across disorders. Synthetic facial images offer a way to supplement the training data without collecting additional patient photographs. Their usefulness, however, depends on whether they improve recognition of real patients: generated images may introduce artifacts or repeat features already represented in the training set. It is therefore necessary to examine both how much synthetic augmentation to use and which disorders benefit. We investigate disease-specific synthetic oversampling using images from the Phenotypic Disease Image Database to augment a subset of the GestaltMatcher Database. We compare increasing augmentation levels in an image-based model, GestaltMatcher-Arc, and a multimodal model, GestaltMML, while keeping the real training and patient-disjoint evaluation partitions fixed. Repeated training runs assess overall and disease-specific accuracy, and an exploratory embedding analysis examines changes in class compactness and separation. Augmentation improves mean recognition accuracy in both training setups, although gains remain modest in GestaltMatcher-Arc and continue across the tested levels in GestaltMML. These aggregate improvements are accompanied by uneven disease-level responses, including reduced accuracy for some disorders. In the embedding analysis, disorders with fewer real training images tend to gain more class separation, but geometric changes do not consistently track classification performance. Together, the findings support synthetic oversampling for limited-data facial phenotyping and emphasize the need to assess its amount and benefit for individual disorders within each training setup.
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URL
https://arxiv.org/abs/2610.23730
