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

arXiv: https://arxiv.org/abs/2604.03454 · HTML: https://mlsanity.com/paper/2604.03454/

## Key facts

- Cited by 1 papers in the map (data through 14 Oct 2026).
- Builds on 22 of its 56 references that are in the map.
- First posted on arXiv 3 Apr 2026.

## Builds on (most cited first, 22 of 22)

- [Deep Residual Learning for Image Recognition](https://mlsanity.com/paper/1512.03385/) (2015)
- [Learning Transferable Visual Models From Natural Language Supervision](https://mlsanity.com/paper/2103.00020/) (2021)
- [Denoising Diffusion Probabilistic Models](https://mlsanity.com/paper/2006.11239/) (2020)
- [PyTorch: An Imperative Style, High-Performance Deep Learning Library](https://mlsanity.com/paper/1912.01703/) (2019)
- [Very Deep Convolutional Networks for Large-Scale Image Recognition](https://mlsanity.com/paper/1409.1556/) (2014)
- [Swin Transformer: Hierarchical Vision Transformer using Shifted Windows](https://mlsanity.com/paper/2103.14030/) (2021)
- [The Unreasonable Effectiveness of Deep Features as a Perceptual Metric](https://mlsanity.com/paper/1801.03924/) (2018)
- [Densely Connected Convolutional Networks](https://mlsanity.com/paper/1608.06993/) (2016)
- [Qwen2.5-VL Technical Report](https://mlsanity.com/paper/2502.13923/) (2025)
- [mixup: Beyond Empirical Risk Minimization](https://mlsanity.com/paper/1710.09412/) (2017)
- [DreamBooth: Fine Tuning Text-to-Image Diffusion Models for Subject-Driven Generation](https://mlsanity.com/paper/2208.12242/) (2022)
- [Prototypical Networks for Few-shot Learning](https://mlsanity.com/paper/1703.05175/) (2017)
- [CutMix: Regularization Strategy to Train Strong Classifiers with Localizable Features](https://mlsanity.com/paper/1905.04899/) (2019)
- [FaceNet: A Unified Embedding for Face Recognition and Clustering](https://mlsanity.com/paper/1503.03832/) (2015)
- [BioBERT: a pre-trained biomedical language representation model for biomedical text mining](https://mlsanity.com/paper/1901.08746/) (2019)
- [Real-ESRGAN: Training Real-World Blind Super-Resolution with Pure Synthetic Data](https://mlsanity.com/paper/2107.10833/) (2021)
- [VGGFace2: A dataset for recognising faces across pose and age](https://mlsanity.com/paper/1710.08092/) (2017)
- [Towards Faster and Stabilized GAN Training for High-fidelity Few-shot Image Synthesis](https://mlsanity.com/paper/2101.04775/) (2021)
- [Multimodal Healthcare AI: Identifying and Designing Clinically Relevant Vision-Language Applications for Radiology](https://mlsanity.com/paper/2402.14252/) (2024)
- [DDColor: Towards Photo-Realistic Image Colorization via Dual Decoders](https://mlsanity.com/paper/2212.11613/) (2022)
- [Few Shot Learning for Medical Imaging: A Comparative Analysis of Methodologies and Formal Mathematical Framework](https://mlsanity.com/paper/2305.04401/) (2023)
- [A Foundational Generative Model for Breast Ultrasound Image Analysis](https://mlsanity.com/paper/2501.06869/) (2025)

## Built on by (most cited first, 1 of 1)

- [Synthetic Data Alone is Enough? Rethinking Data Scarcity in Pediatric Rare Disease Recognition](https://mlsanity.com/paper/2605.22767/) (2026)

## Abstract (arXiv)

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 images spanning 103 rare genetic conditions (average 4.4 samples per condition). Each ethically verified image is paired with standardized metadata. RDFace enables the development and evaluation of data-efficient AI models for rare disease diagnosis under real-world low-data constraints. We benchmark multiple pretrained vision backbones using cross-validation and explore synthetic augmentation with DreamBooth and FastGAN. Generated images are filtered via facial landmark similarity to maintain phenotype fidelity and merged with real data, improving diagnostic accuracy by up to 13.7% in ultra-low-data regimes. To assess semantic validity, phenotype descriptions generated by a vision-language model from real and synthetic images achieve a report similarity score of 0.84. RDFace establishes a transparent, benchmark-ready dataset for equitable rare disease AI research and presents a scalable framework for evaluating both diagnostic performance and the integrity of synthetic medical imagery.