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Autori principali: Feng, Ganlin, Long, Yuxi, Lou, Erin, Chen, Lianghong, Jing, Zihao, Hu, Pingzhao, Xu, Wei
Natura: Preprint
Pubblicazione: 2026
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Accesso online:https://arxiv.org/abs/2605.22767
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author Feng, Ganlin
Long, Yuxi
Lou, Erin
Chen, Lianghong
Jing, Zihao
Hu, Pingzhao
Xu, Wei
author_facet Feng, Ganlin
Long, Yuxi
Lou, Erin
Chen, Lianghong
Jing, Zihao
Hu, Pingzhao
Xu, Wei
contents 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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id arxiv_https___arxiv_org_abs_2605_22767
institution arXiv
publishDate 2026
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spellingShingle Synthetic Data Alone is Enough? Rethinking Data Scarcity in Pediatric Rare Disease Recognition
Feng, Ganlin
Long, Yuxi
Lou, Erin
Chen, Lianghong
Jing, Zihao
Hu, Pingzhao
Xu, Wei
Computer Vision and Pattern Recognition
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.
title Synthetic Data Alone is Enough? Rethinking Data Scarcity in Pediatric Rare Disease Recognition
topic Computer Vision and Pattern Recognition
url https://arxiv.org/abs/2605.22767