GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
Published in European Journal of Human Genetics, 2025
Recommended citation: Kirchhoff, Aron et al. "GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders." European Journal of Human Genetics. Springer International Publishing, 2025 https://www.nature.com/articles/s41431-025-01787-z
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. Therefore, publishing images of individuals affected by pathogenic variants in disease-associated genes has been an important part of scientific communication. Furthermore, medical imaging data is also crucial for teaching and training deep-learning models such as GestaltMatcher. However, medical data is often sparsely available, and sharing patient images involves risks related to privacy and re-identification. Therefore, we explored whether generative neural networks can be used to synthesize accurate portraits for rare disorders. We modified a StyleGAN architecture and trained it to produce artificial condition-specific portraits for multiple disorders. In addition, we present a technique that generates a sharp and detailed average …