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AI Language Models in Health Care (860) Clinical Informatics (2428) Clinical Information and Decision Making (3949) Decision Support for Health Professionals (2394) Imaging Informatics (523) Artificial Intelligence (5097)

Published on in Vol 14 (2026)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/105860, first published .
Young person's face with facial feature analysis and DNA helix graphic

Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study

Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study

Authors of this article:

Jie Song1 Author Orcid Image ;   Zhichuan Xu1 Author Orcid Image ;   Meng Xiao1 Author Orcid Image ;   Cheng Bi1 Author Orcid Image ;   Yuxin Zhang1 Author Orcid Image ;   Xin Zheng1 Author Orcid Image ;   Xiaoran Li1 Author Orcid Image ;   Ziyu Lu1 Author Orcid Image ;   Qiongfang Cao1 Author Orcid Image ;   Bairong Shen1 Author Orcid Image
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Jie Song   1 , PhD ;   Zhichuan Xu   1 , BS ;   Meng Xiao   1 , BS ;   Cheng Bi   1 , PhD ;   Yuxin Zhang   1 , PhD ;   Xin Zheng   1 , PhD ;   Xiaoran Li   1 , BS ;   Ziyu Lu   1 , BS ;   Qiongfang Cao   1 , PhD ;   Bairong Shen   1 , PhD

1 Department of Dermatovenereology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular, West China Hospital of Sichuan University, Chengdu, Sichuan, China

Corresponding Author:

  • Bairong Shen, PhD
  • Department of Dermatovenereology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular
  • West China Hospital of Sichuan University
  • No.2222, Xinchuan Road
  • Gaoxin District
  • Chengdu, Sichuan 610212
  • China
  • Phone: 86 15995854635
  • Fax: 86 2861528682
  • Email: bairong.shen@scu.edu.cn