Introduction. Approximately 4% of the world's population suffers from orphan diseases, the majority of them has a genetic origin. Syndromological analysis is crucial in studying the semiotics of hereditary pathology, but it requires substantial experience and can be subjective. Additionally, there is a shortage of trained clinical geneticists, leading to long waiting times for appointments. To address these challenges, computer programs have been developed with utilizing artificial intelligence to detect rare hereditary disorders by analysing facial images. The "Face2Gene" application generates a list of ten genetic pathologies that the patient may have, aides geneticists in more effective screening of genetic syndromes.
