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gargoylism
gargoylism (ˈɡɑːɡɔɪlɪzəm) na medical condition characterized by physical deformity and mental deficiencygargoylisman abnormal physical condition characterized by extensive structural defects of the skeleton and by gross mental deficiency.See also: Anatomy, Bones, Disease and IllnessThesaurus| Noun | 1. | gargoylism - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardationdysostosis multiplex, Hurler's disease, Hurler's syndrome, lipochondrodystrophymonogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genesmucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues |
Translationsgargoylism
gargoylism[′gär·gȯi‚liz·əm] (medicine) Hurler's syndrome gargoylism
Hurler's syndrome [hoor´lerz] the prototypical form of mucopolysaccharidosis" >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 (gär′goil′ĭz′əm)n. Coarse fascies and facial dysmorphia, characteristic of children with Hurler syndrome and certain other types of mucopolysaccharidosis.gar·goyl·ism (gahr'goyl-izm) A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome (q.v.). gargoylism The 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.gar·goyl·ism (gahr'goyl-izm) A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome. gargoylism
Synonyms for gargoylismnoun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolismSynonyms- dysostosis multiplex
- Hurler's disease
- Hurler's syndrome
- lipochondrodystrophy
Related Words- monogenic disease
- monogenic disorder
- mucopolysaccharidosis
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