A genetic syndrome due to a deficiency of the enzyme a-L-iduronidase (mucopolysaccharidase) with autosomal recessive inheritance. Phenotype presents with a wide spectrum including severe skeletal abnormalities, corneal clouding, hepatosplenomegaly, mental retardation and mitral valve stenosis.
a mucopolysaccharidosis characterized by cerebral degeneration and storage of mucopolysaccharides; symptoms include severe abnormality in the development of skeletal cartilage and bone, characteristic facial features, and severe mental retardation; Hurler syndrome is autosomal recessive, and is usually fatal during childhood
A heritable condition involving deficiency of an enzyme (alpha-L-iduronidase), leading to abnormal accumulations of materials inside cells, then resulting in abnormal development of cartilage and bone and other systems. (SMD)