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Hurler's syndrome

One entry found.

Main Entry: Hur·ler's syndrome
Pronunciation: \ˈhər-lərz-, ˈhr-\
Variant(s): or Hur·ler syndrome \ˈhər-lər-, ˈhr-\
Function: noun
: a mucopolysaccharidosis that is inherited as an autosomal recessive trait and is characterized by deformities of the skeleton and features, hepatosplenomegaly, restricted joint flexibility, clouding of the cornea, mental retardation, deafness, and death usually in childhood or early adolescence—called also Hurler's disease
Hur·ler \ˈhr-lər\ , Gertrud (1889–1965), German pediatrician. Hurler published a detailed description of one of the mucopolysaccharidoses in 1919. This hereditary disorder is now also known as Hurler's syndrome, in her honor.

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