Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clin Genet. 2017 Aug;92(2):166-171. doi: 10.1111/cge.12948. Epub 2017 Jan 16.


The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.

Keywords: DR Congo; Down syndrome; Face2Gene; dysmorphology; facial dysmorphism; gestalt.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Adult
  • Blacks
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / epidemiology
  • Craniofacial Abnormalities / physiopathology
  • Down Syndrome / diagnosis*
  • Down Syndrome / epidemiology
  • Down Syndrome / physiopathology
  • Face / diagnostic imaging
  • Face / physiopathology
  • Female
  • Humans
  • Image Processing, Computer-Assisted*
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / epidemiology
  • Intellectual Disability / physiopathology
  • Male
  • Muscular Atrophy / diagnosis*
  • Muscular Atrophy / epidemiology
  • Muscular Atrophy / physiopathology
  • Musculoskeletal Abnormalities / diagnosis
  • Musculoskeletal Abnormalities / epidemiology
  • Musculoskeletal Abnormalities / physiopathology
  • Whites
  • Young Adult

Supplementary concepts

  • Facial Dysmorphism with Multiple Malformations