clinical features

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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

Last reviewed 01/2018