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Artificial intelligence supported facial feature analysis in medical genetics
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1
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2025
Jahr
Abstract
Purpose of review This review highlights recent developments in the use of machine learning supported facial feature analysis in the context of genetic and syndromic conditions. The review focusses on 2D image-based tools. The 2D images are easily obtained using handheld devices such as mobile phones and are more relevant to general practice than 3D image based systems. Recent findings Different algorithms are used widely in pediatric clinics, medical genetics clinics, for gene variant analysis and in research. Integrated systems combining next-generation phenotyping with next-generation genotyping support a shortened diagnostic odyssey for patients. Summary Future integration of phenotyping using data available in electronic medical records with genotyping data will likely result in earlier identification of possible genetic conditions.
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