Computer-based recognition of dysmorphic faces

Eur J Hum Genet. 2003 Aug;11(8):555-60. doi: 10.1038/sj.ejhg.5200997.

Abstract

Genetic syndromes often involve craniofacial malformations. We have investigated whether a computer can recognize disease-specific facial patterns in unrelated individuals. For this, 55 photographs (256 x 256 pixel) of patients with mucopolysaccharidosis type III (n=6), Cornelia de Lange (n=12), fragile X (n=12), Prader-Willi (n=12), and Williams-Beuren (n=13) syndromes were preprocessed by a Gabor wavelet transformation. By comparing the feature vectors at 32 facial nodes, 42/55 (76%) of the patients were correctly classified. In another four patients (7%), the correct and an incorrect diagnosis scored equally well. Clinical geneticists who were shown the same photographs achieved a recognition rate of 62%. Our results prove that certain syndromes are associated with a specific facial pattern and that this pattern can be described in mathematical terms.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Facies*
  • Female
  • Humans
  • Image Processing, Computer-Assisted*
  • Male
  • Pattern Recognition, Automated*
  • Photography / methods*
  • Syndrome