Noun: Hurler's disease
- Hereditary disease (autosomal recessive) consisting of an error in mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
"The child with Hurler's disease showed characteristic facial features and developmental delays";
- Hurler's syndrome, gargoylism, dysostosis multiplex, lipochondrodystrophy
Type of: monogenic disease, monogenic disorder, mucopolysaccharidosis
Encyclopedia: Hurler's disease