1. 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 dysostosis multiplex showed characteristic facial features and developmental delays";
   - Hurler's syndrome, Hurler's disease, gargoylism, lipochondrodystrophy

Derived forms: dysostosis multiplexes

Type of: monogenic disease, monogenic disorder, mucopolysaccharidosis

Encyclopedia: Dysostosis multiplex