Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
the prototypical form of mucopolysaccharidosis, with a gargoyle-like face, dwarfism, severe somatic and skeletal changes, severe mental retardation, cloudy corneas, deafness, cardiovascular defects, hepatosplenomegaly, and joint contractures. It is due to a deficiency of the enzyme α-l-iduronidase, and is transmitted as an autosomal recessive trait. Called also gargoylism.
gargoylism/gar·goyl·ism/ (gahr´goil-izm) Hurler's syndrome.
Coarse fascies and facial dysmorphia, characteristic of children with Hurler syndrome and certain other types of mucopolysaccharidosis.
See Hurler's syndrome.
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome (q.v.).
gargoylismThe effect of one of a number of X-linked or autosomal recessive disorders of MUCOPOLYSACCHARIDE metabolism that cause coarsening of the features, excessive hairiness and often mental retardation.
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome.
n See syndrome, Hurler's.
mucopolysaccharidosis I; Hurler's syndrome.