An Interpretable Vision Transformer as a Fingerprint-Based Diagnostic Aid for Kabuki and Wiedemann-Steiner Syndromes
This addresses the issue of underdiagnosis in rare genetic disorders by providing a non-invasive and accessible diagnostic tool, though it is incremental as it applies an existing method to a new medical domain.
The study tackled the problem of diagnosing rare genetic syndromes like Kabuki and Wiedemann-Steiner syndromes by developing a vision transformer model that uses fingerprint images for classification, achieving AUC scores up to 0.85 and F1 scores up to 0.83 across tasks.
Kabuki syndrome (KS) and Wiedemann-Steiner syndrome (WSS) are rare but distinct developmental disorders that share overlapping clinical features, including neurodevelopmental delay, growth restriction, and persistent fetal fingertip pads. While genetic testing remains the diagnostic gold standard, many individuals with KS or WSS remain undiagnosed due to barriers in access to both genetic testing and expertise. Dermatoglyphic anomalies, despite being established hallmarks of several genetic syndromes, remain an underutilized diagnostic signal in the era of molecular testing. This study presents a vision transformer-based deep learning model that leverages fingerprint images to distinguish individuals with KS and WSS from unaffected controls and from one another. We evaluate model performance across three binary classification tasks. Across the three classification tasks, the model achieved AUC scores of 0.80 (control vs. KS), 0.73 (control vs. WSS), and 0.85 (KS vs. WSS), with corresponding F1 scores of 0.71, 0.72, and 0.83, respectively. Beyond classification, we apply attention-based visualizations to identify fingerprint regions most salient to model predictions, enhancing interpretability. Together, these findings suggest the presence of syndrome-specific fingerprint features, demonstrating the feasibility of a fingerprint-based artificial intelligence (AI) tool as a noninvasive, interpretable, and accessible future diagnostic aid for the early diagnosis of underdiagnosed genetic syndromes.