A Systematic Study of Intelligent Face Scanning in Rare Disease Detection

Abstract

A rare disease is a health condition of relatively low prevalence that affects a small number of people compared with other prevalent diseases in the general population. The cause of many rare diseases is still unknown. However, most of them can be traced to genetic mutations and are known as rare genetic diseases. These diseases have very limited diagnostic information available; making clinical diagnosis difficult. Distinguishable facial features can serve as an important criterion in the detection of rare genetic diseases. With the use of facial recognition technology, the detection of rare genetic diseases can be made easier for clinicians. Recent trends show that AI Face-Scanning apps, based on machine learning and deep learning algorithms, can detect genetic diseases with a high accuracy rate. This research work presents the systematic study done in the detection of some of the rare genetic diseases, which can be distinguished based on distinct facial phenotypes (the set of observable physical characteristics of an individual).KeywordsRare genetic diseaseFacial recognitionArtificial intelligenceMachine learningDeep learning