Dysmorphic facial features in aspartylglucosaminuria patients and carriers

Clin Dysmorphol. 2004 Jan;13(1):11-5. doi: 10.1097/00019605-200401000-00003.


The facial photos of 76 aspartylglucosaminuria (AGU) patients, 29 obligate carriers and 78 unrelated controls were evaluated for dysmorphic features to see whether this autosomal recessive lysosomal storage disease includes a dysmorphic facial gestalt in addition to the well-known age-related coarsening of the facies and whether the carrier status of AGU might have an effect on the facial features. A consistent dysmorphic gestalt with hypertelorism, a short and broad nose with round nares, simple often small ears with small or missing lobule and modest folding of helices, thick lips and a square shape of face, was found to be present long before the coarsening begins. Recognition of this pattern of facial features might help in the early diagnosis of AGU. Statistically, puffy eyelids were found to be significantly more frequent in AGU carriers than in controls. These findings support an earlier implication that AGU carrier status might have a slight influence on the phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aspartylglucosylaminase / urine*
  • Child
  • Child, Preschool
  • Eyelids
  • Face
  • Facies
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Hypertelorism
  • Lysosomal Storage Diseases / diagnosis*
  • Lysosomal Storage Diseases / pathology
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / pathology
  • Middle Aged
  • Phenotype


  • Aspartylglucosylaminase

Associated data

  • OMIM/20840