Hurler syndrome (MONDO_0011758) is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. Also known as: Hurler disease, MPS I H, MPS1H, MPSIH, mucopolysaccharidosis type 1H, mucopolysaccharidosis type IH.