Hurler syndrome
Hurler syndrome
Definition
Hurler syndrome 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, Hurler syndrome, MPS I H, MPS1H, MPSIH, mucopolysaccharidosis type 1H, mucopolysaccharidosis type IH — per MONDO