DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders

What this Trial Is About

There are over 7,000 known genetic disorders affecting an estimated 6-10% of the population, with 30-40% showing distinct facial and skull features, like Down's syndrome or Fragile X syndrome. Recognizing these facial traits is crucial for diagnosis, but it can be challenging due to varied presentations and overlapping features. This research explores how combining automated facial analysis with genetic data can improve diagnosis for rare genetic diseases. The study uses a device to take two front and side photos of each participant. One of these images will be uploaded to the GestaltMatcher Database, an artificial intelligence system that analyzes facial features along with age, gender, race, and clinical information to suggest possible diagnoses. The study also compares facial deformities between Taiwanese patients and those from other countries, and examines how doctors from Taiwan and Germany diagnose patients differently using eye tracking technology. Participants will undergo photo sessions and their images will be analyzed by GestaltMatcher to assess diagnostic accuracy and facial differences over a three-year period. Researchers will also use eye trackers to evaluate doctors' diagnostic criteria and compare diagnostic approaches between geneticists from different countries. The study aims to improve understanding of facial phenotype differences and diagnostic processes in rare genetic diseases.

DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders