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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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
Coarse fascies and facial dysmorphia, characteristic of children with Hurler syndrome and certain other types of mucopolysaccharidosis.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome (q.v.).
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome.
Medical Dictionary for the Dental Professions © Farlex 2012