How ethnic background affects facial features in rare genetic disorders
DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders
This project will test whether automated facial-analysis tools can recognize facial signs of rare genetic conditions equally well across different ethnic backgrounds in people with suspected genetic disorders.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | National Taiwan University Hospital Academic / other |
| Locations | 1 site (Taipei) |
| Trial ID | NCT05913843 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: People of any age with abnormal facial features who are suspected of having a genetic disorder and who can cooperate with taking and sharing standardized facial photographs are ideal candidates.
Not a fit: Patients without noticeable facial dysmorphism, those whose conditions do not affect facial features, or individuals unable to provide usable photos are unlikely to benefit from this approach.
Why it matters
Potential benefit: If successful, the work could help clinicians diagnose rare genetic disorders faster and more fairly across diverse ethnic groups by improving automated facial-analysis tools.
How similar studies have performed: Prior work using automated facial-analysis tools has shown promise for recognizing some genetic syndromes, but the effects of ethnic diversity on performance remain incompletely studied.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Cases with abnormal appearance of clinical symptoms and suspected genetic diseases Exclusion Criteria: * Unable to cooperate with the examiner
Where this trial is running
Taipei
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.