Previously, we were able to demonstrate that the facial dysmorphology novel analysis technology was successful in recognizing the facial dysmorphology associated with targeted selected syndromes by processing 2D facial images. In this study we investigated the performance of the Facial Dysmorphology Novel Analysis technology by analyzing a random set of images of dysmorphic individuals affected with a random variety of syndromes.
Conclusions and future work
30%–40% of genetic disorders manifest craniofacial abnormalities. Facial analysis software can successfully assist medical professionals of different specialties in the research and investigation of multiple genetic syndromes characterized by dysmorphic features. Possible future applications may include usage of facial analysis software to complement molecular studies, such as whole exome sequencing, by automatic phenotyping.