Facial appearance in glycogen storage disease type III

Clin Dysmorphol. 2002 Apr;11(2):117-20. doi: 10.1097/00019605-200204000-00008.


Amylo-1,6-glucosidase deficiency (glycogen storage disease type III) is associated with hypoglycaemia, hepatomegaly, raised transaminases and in most cases skeletal myopathy and cardiomyopathy. The disorder has not been considered to cause dysmorphism. We report consistent facial features in seven patients with GSD type III consisting of midface hypoplasia with a depressed nasal bridge and a broad upturned nasal tip, indistinct philtral pillars, and bow-shaped lips with a thin vermillon border. Younger patients had in addition deepset eyes. Several children had clinical problems such as persistent otitis media or recurrent sinusitis. The underlying aetiology of these features is unknown but the similarity in all our patient suggests that there is a facial phenotype for this disorder.

Publication types

  • Case Reports

MeSH terms

  • Body Height
  • Child
  • Facies*
  • Female
  • Glycogen Storage Disease Type III / pathology*
  • Humans
  • Infant
  • Male