Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence
can support physicians in recognizing these patterns by associating facial phenotypes with …

Recently, a lot of attention has been focused on the incorporation of 3D data into face
analysis and its applications. Despite providing a more accurate representation of the face …

With the advances in computer vision, computational facial analysis has become a powerful
and effective tool for diagnosing rare disorders. This technology, also called next‐generation …

22q11. 2 deletion syndrome (22q11. 2 DS) is the most common microdeletion syndrome and
is underdiagnosed in diverse populations. This syndrome has a variable phenotype and …

Down syndrome is the most common cause of cognitive impairment and presents clinically
with universally recognizable signs and symptoms. In this study, we focus on exam findings …

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function
variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well …

Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a
1.5 Mb deletion in 7q11. 23. The phenotype of WBS has been well described in populations …

Background Collectively, an estimated 5% of the population have a genetic disease. Many
of them feature characteristics that can be detected by facial phenoty**. Face2Gene …

Background While characteristic facial features provide important clues for finding the
correct diagnosis in genetic syndromes, valid assessment can be challenging. The next …

Background: Evaluation of surgical treatment for craniosynostosis is typically based on
subjective visual assessment or simple clinical metrics of cranial shape that are prone to …