仅用高保真合成数据,也能实现儿科罕见病识别。
Synthetic Data Alone is Enough? Rethinking Data Scarcity in Pediatric Rare Disease Recognition

- 用生成的面部图像训练模型,不依赖真实数据。
- 大规模合成数据下,识别准确率接近真实数据训练结果。
- 可为遗传咨询提供隐私安全的可视化教学资源。
患有罕见遗传病的儿童常表现出独特的面部表型,但因儿科数据极度稀缺、隐私限制及共享困难,计算机视觉系统用于早期诊断仍面临挑战,也制约了临床遗传咨询所需的视觉资源。尽管已有研究证明合成数据能补充真实数据并保留表型语义,但其在超低资源儿科场景下是否足以独立训练仍不明确。本文研究了仅使用表型感知的合成面部图像进行训练的可行性。在受控实验中,模型仅基于不断增加规模的合成图像进行训练。结果显示,在足够规模下,合成数据训练的模型在多个骨干网络上表现与仅用真实数据训练的基线相当,表明高质量合成数据可逼近临床有意义的数据分布。这一发现还支持将合成儿科面部图像作为隐私保护资源,用于遗传教育与咨询,辅助医生培训和患者沟通。研究凸显了计算机视觉提升数据效率、拓展儿童医疗可视化工具的潜力。
原文摘要 · Abstract (English)
Children with rare genetic diseases often exhibit distinctive facial phenotypes, yet developing computer vision systems for early diagnosis remains challenging due to extreme data scarcity, privacy constraints, and limited data sharing in pediatric settings. These challenges not only hinder automated diagnosis but also restrict the availability of visual resources for clinical genetic counseling. While prior work has shown that synthetic data can augment real datasets and preserve phenotype-level semantics, it remains unclear whether synthetic data alone is sufficient for learning in ultra-low-resource pediatric settings. In this work, we study the synthetic-only regime for pediatric rare disease recognition. Under a controlled experimental setup, models are trained exclusively on phenotype-aware synthetic facial images at increasing scales. We find that synthetic-only training achieves performance comparable to real-data-only baselines at sufficient scale across multiple backbones, suggesting that high-fidelity synthetic data can approximate clinically meaningful distributions. These findings together further enable the use of synthetic pediatric facial images as privacy-preserving resources for genetic education and counseling, supporting clinician training and patient communication. Our results highlight the potential of computer vision to improve data efficiency and expand accessible visual tools in children's healthcare.
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