hurler's syndrome

Medical Dictionary

Hurler's syndrome Hur·ler's syndrome (hûr'lərz)
n.
A hereditary defect in mucopolysaccharide metabolism characterized by the excretion of dermatan sulfate and heparitin sulfate in the urine, abnormal development of skeletal cartilage and bone, corneal clouding, enlarged liver and spleen, mental retardation and sometimes deafness, and a coarsened facial surface with flattened nose and enlarged lips. Also called dysostosis multiplex, Hurler's disease, lipochondrodystrophy, type I mucopolysaccharidosis.

The American Heritage® Stedman's Medical Dictionary
Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.
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WordNet
hurler's syndrome

noun
hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation 
WordNet® 3.0, © 2006 by Princeton University.
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