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Hurler's syndrome picture

Hurler syndrome is an autosomal recessive lysosomal storage disorder affecting mucopolysaccharide metabolism, the underlying defect being a deficiency of alpha-L-iduronidase. Hurler syndrome is also called gargoylism.

The patient presents before the age of 2 with coarse facial features and mild developmental delay. The child's development ceases and a gradual intellectual decline occurs with death in the second decade.

Picture of child with Hurler's syndrome


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