Hurler Syndrome Features

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

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