Hurler syndrome is the most severe form of mucopolysaccharidosis type 1, 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.
Mnemonic: “HURLER’S”
H: Heptosplenomegaly
U: Ugly facies
R: Recessive (AR inheritance)
L: L-iduronidase deficiency (alpha)
E: Eyes clouded
R: Retarded
S: Short/ Stubby fingers
