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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

In Hurler syndrome the infant appears normal at birth, but after the first year features become apparent as follows:

  • coarse features
  • large head with dolichocephaly and frontal bossing
  • kyphosis
  • protuberant abdomen
  • umbilical herniation
  • hepatosplenomegaly
  • corneal clouding - differentiates Hurler from Hunter
  • cardiac abnormalities:
    • thickening of the valves
    • narrowing of the arteries
    • increased myocardial rigidity
    • heart failure
  • proportionate dwarfism - the limbs and trunk are equally affected
  • mental retardation

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