Facial features in Alagille syndrome: specific or cholestasis facies?

Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579.


Alagille syndrome is a complex multisystem disorder characterized by bile duct paucity, cholestasis, cardiac defects, vertebral anomalies, ophthalmologic changes, and facial dysmorphism. Although the facial features are highly conserved in affected individuals both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking clinical dysmorphologists to examine a photographic panel of 18 pediatric and adult individuals with Alagille syndrome and other forms of congenital intrahepatic cholestasis. The examiners had no knowledge of the actual diagnoses. The group was able to distinguish correctly between Alagille and non-Alagille individuals with a frequency of 79%. Professional grade of the respondent did not affect the accuracy of correct identification. The adult facial features were the most difficult to evaluate successfully. The sensitivity of facies identification to diagnose Alagille syndrome was 76%, the specificity 82%, the positive predictive value 81%, and the negative predictive value 77%. These results suggest that the facies seen in Alagille syndrome is specific to this condition and its recognition is a valuable tool in diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alagille Syndrome / pathology*
  • Animals
  • Cholestasis / pathology*
  • Facies*
  • Female
  • Humans
  • In Situ Hybridization
  • Male
  • Mice
  • Pedigree
  • Surveys and Questionnaires