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Hurler's syndrome
Thesaurus| Noun | 1. | Hurler's syndrome - 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, gargoylism, Hurler's disease, 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 |
Hurler's syndrome
Hurler's syndrome[′hər·lərz ‚sin‚drōm] (medicine) Mucopolysaccharoidosis I, a hereditary condition transmitted as an autosomal recessive in which there is excessive chondroitin sulfate B and heparin sulfate in the urine and tissues, and which is marked clinically by a complex of symptoms including grotesque skeletal and facial deformities, skin and cardiac changes, clouding of the cornea, and mental deficiency. Also known as gargoylism; lipochondrodystrophy. Hurler's syndrome
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.Hurler's syndrome One of the mucopolysaccharidoses, a group of inherited disorders. Hurler's syndrome is due to the absence of the enzyme alpha-iduronidase. There is dwarfism, many skeletal deformities, corneal opacity, heart abnormalities, mental retardation and early death. The condition was once known as ‘gargoylism’. (Gertrude Hurler, Austrian paediatrician, who described the condition in 1920)Hurler's syndrome
Synonyms for Hurler's syndromenoun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolismSynonyms- dysostosis multiplex
- gargoylism
- Hurler's disease
- lipochondrodystrophy
Related Words- monogenic disease
- monogenic disorder
- mucopolysaccharidosis
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