clinical features
Last reviewed 01/2018
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
mental retardation (term that has been replaced by intellectual developmental disorder)