How ethnic background affects facial features in rare genetic disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project collects facial photographs from people who have unusual facial features and are suspected of having a rare genetic disorder. Investigators will use automated facial-analysis tools (examples include platforms like Face2Gene and GestaltMatcher) to quantify facial dysmorphisms and compare patterns across participants of different ethnic backgrounds. The work aims to identify whether ethnicity changes algorithm performance or the appearance of characteristic facial features, and to create a more inclusive reference for automated recognition. Data will be analyzed to explore algorithmic biases and to propose adjustments that could improve diagnostic support for underrepresented populations.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Cases with abnormal appearance of clinical symptoms and suspected genetic diseases

Exclusion Criteria:

* Unable to cooperate with the examiner

Where it's running

• National Taiwan University Hospital
  Taipei, Taiwan Recruiting

Study contacts

• Principal investigator: Ni-Chung Lee, M.D., Ph.D. — National Taiwan University Hospital
• Study coordinator: Ni-Chung Lee, M.D., Ph.D.
• Email: ncleentu@ntu.edu.tw
• Phone: 886-2-23123456

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.