DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders
Trial ID: NCT05913843
Status: RECRUITING
Study type: OBSERVATIONAL
Start date: 2024-07-30
Completion date: 2026-06-30
Sponsor: National Taiwan University Hospital
Collaborators: University of Bonn
Conditions: Rare Diseases
Interventions: Take photo
Locations: National Taiwan University Hospital
Countries: Taiwan
Enrollment: 100
Age range: None - None
Sex: ALL

Summary:
There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's syndrome or Fragile X syndrome. Therefore, the known facial phenotype of many genetic disorders is highly informative to clinical diagnosis.

Since a large number of genetic diseases are associated with special facial phenotypes that are difficult to remember, automated facial analysis such as Face2Gene and GestaltMatcher can assist in the identification and diagnosis of facial phenotypes related to various genetic diseases. Although the current advances in whole exome sequencing (whole exome sequencing) or whole genome sequencing (whole genome sequencing) have greatly improved the diagnostic rate of genetic diseases, about half of the patients are still undiagnosed.

For patients with special facial phenotypes, the investigators believe that by combining automated facial analysis and whole exome sequencing data, it should be possible to provide a fast and accurate diagnostic model of genetic mutations for genetic diseases. GestaltMatcher Database is a medical imaging database of rare diseases developed by Professor Peter Krawitz of the University of Bonn, Germany. The database's artificial intelligence module will infer a patient's possible diagnosis based on the patient's photo, age, gender, race, and clinical description. The database will be open to medical researchers in related fields to improve the diagnosis of rare diseases.

The investigators will use GestaltMatcher to assist in the diagnosis of patients, and compare the accuracy and significant differences in facial deformities between Taiwanese patients and patients from different countries. And use Eye Tracker to analyze how doctors diagnose patients through facial photos, and compare whether there are significant differences between foreign patients and Taiwanese patients in the diagnosis literature of Taiwanese doctors. The project will also analyze how genetic doctors at the University of Bonn in Germany diagnose patients, and compare it with Taiwanese doctors to better understand the differences in the process of doctors diagnosing patients and ethnic backgrounds.

Eligibility criteria:
Inclusion Criteria:

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

Exclusion Criteria:

* Unable to cooperate with the examiner

Outcomes:
The diagnosis accuracy rate of use GestaltMatcher to analysis participant facial features in rare diseases; The significant difference in facial deformities between Taiwan participant and participant from different countries by GestaltMatcher