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Is a: - Disease or Syndrome
- Congenital Abnormality
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Definition: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (iduronidase) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (mucopolysaccharidosis ii) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals. |
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Synonyms: - Disease, Hurler
- Disease, Hurler's
- Gargoylism, Hurler Syndrome
- Hurler Disease
- Hurler Scheie Syndrome
- Hurler Syndrome
- Hurler Syndrome Gargoylism
- Hurler's Disease
- Hurler's Syndrome
- Hurler-Scheie Syndrome
- Hurlers Disease
- Hurlers Syndrome
- Lipochondrodystrophies
- Lipochondrodystrophy
- MPS I H
- MPS I H S
- MPS I H-S
- MPS I S
- MPS I-S
- Mucopolysaccharidosis 1
- Mucopolysaccharidosis 5
- Mucopolysaccharidosis I S
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis IS
- Mucopolysaccharidosis V
- Pfaundler Hurler Syndrome
- Pfaundler-Hurler Syndrome
- Scheie Syndrome
- Scheie's Syndrome
- Syndrome, Hurler's
- Syndrome, Hurler-Scheie
- Syndrome, Pfaundler-Hurler
- Syndrome, Scheie
- Syndrome, Scheie's
- Syndromes, Scheie
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