What is GestaltMatcher AI?

GestaltMatcher AI is a diagnostic support tool that uses next-generation phenotyping to identify rare genetic disorders based on facial features. From a single portrait photo, it generates a ranked list of potential differential diagnoses.

The name GestaltMatcher refers to the concept of a facial gestalt, which describes the overall impression of facial features that can suggest a specific genetic condition. This approach is commonly used in clinical dysmorphology and is now supported by computer vision techniques.

The AI is trained on the images and clinical information of individuals with confirmed genetic diagnoses from GestaltMatcher Database (GMDB). It has been developed to assist clinicians by providing an additional layer of information when evaluating complex cases or selecting appropriate genetic testing.

Where can I access GestaltMatcher AI?

You can use the same analysis engine in two places:

1. Mobile app – capture or upload a patient photo and receive results on device.

   • Android: https://play.google.com/store/apps/details?id=de.genetalk.gestaltmatcher&hl=de&pli=1
   • iOS: https://apps.apple.com/de/app/gestaltmatcher/id6502413806

2. Within GMDB – run the same AI analysis with added context, such as entered HPO terms and a link to the most similar case in the database.

The tool is used in clinical settings, research, and case exploration to support rare disease diagnostics.

→ See also: How can I analyze a patient photo with GestaltMatcher AI?