What does the GestaltScore mean?

The GestaltScore is a numerical measure of how similar the facial features of two patients are. To understand the GestaltScore, it helps to know a little more about how GestaltMatcher AI works.

When a photo is analyzed, GestaltMatcher converts the face into a high-dimensional vector as a mathematical representation of the facial features. Each patient is assigned a specific location in the Clinical Face Phenotype Space, where:

Patients with similar facial features are located closer together.
Patients with different features are farther apart.

The AI considers the location of your patient in the Clinical Face Phenotype Space and calculates the GestaltScore, which reflects the distance between your patient and the closest - so the most similar - patient with a known diagnosis.

As patients with the same diagnosis are close together in the Clinical Face Phenotype Space, they form a cluster. The closer your patient is to a known disease cluster, the more likely the patient carries disease-causing variants in the same gene.

Patients with similar facial features are close together, even when the cluster they form has not been linked to a known disorder yet. This can help identify patients with ultra-rare disorders or previously unrecognized syndromes.

In short, the GestaltScore quantifies how closely your patient’s facial features match another patient in GestaltMatcher Database.

Note: In the GestaltMatcher app (Android | Apple), the result shows similarity values instead of GestaltScores. Thus, the interpretation of the results from the app is different.