Facial features of lysosomal storage disorders.

Journal: Expert review of endocrinology & metabolism
PMID: 36384353

Abstract

INTRODUCTION: The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using artificial intelligence to allow the recognition of diseases and syndromes with similar features. Lysosomal storage disorders are rare, and some have prominent and unique features that may be used to train the accuracy of facial recognition software algorithms. Noteworthy features of lysosomal storage disorders (LSDs) include facial features such as prominent brows, wide noses, thickened lips, mouth, and chin, resulting in coarse and rounded facial features.

Authors

  • Andrea D'Souza
    National Institutes of Health, National Human Genome Research Institute, Bethesda, Md, USA.
  • Emory Ryan
    Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Ellen Sidransky
    Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA. Electronic address: sidranse@mail.nih.gov.

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