Hurler–Scheie syndrome


Hurler–Scheie syndrome

Hurler–Scheie syndrome (also known as "Mucopolysaccharidosis type I H-S") is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.[1]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 

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  • Hurler-Scheie syndrome — Hur·ler Scheie syndrome (hurґlər shaґ) [G. Hurler; Harold G. Scheie, American ophthalmologist, 1909–1990] see under syndrome …   Medical dictionary

  • Hurler-Scheie syndrome — Although clinically distinct diseases, fibroblasts from patients with Hurler s and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same …   Dictionary of molecular biology

  • Hurler-Scheie syndrome — one of the three allelic disorders of mucopolysaccharidosis I, with clinical features intermediate between the Hurler and the Scheie syndromes, caused by deficiency of L iduronidase, and specifically characterized by receding chin (micrognathism) …   Medical dictionary

  • Scheie syndrome — shī n an autosomal recessive mucopolysaccharidosis similar to Hurler s syndrome but less severe that is characterized by clouding of the cornea, slight deformity of the extremities, and disease of the aorta but not by mental retardation or early… …   Medical dictionary

  • Scheie syndrome — (also known as MPS V) ) is less severe version of Hurler s disease. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan [1] but unlike Hurler s, disease has normal intellect and .[2] See also Sanfilippo… …   Wikipedia

  • Scheie syndrome — Mucopolysaccharidosis (lysosomal disease) in which there is a defect in a L iduronidase. Fibroblasts from Scheie syndrome patients do not cross correct fibroblasts from Hurler&’s disease, although the two conditions are clinically distinct …   Dictionary of molecular biology

  • Syndrome de Hurler-Scheie-Hurler/Scheie — Syndrome de Hurler Syndrome de Hurler Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • Hurler-Scheie compound — see under syndrome …   Medical dictionary

  • Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 …   Wikipedia

  • Hurler syndrome — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… …   Medical dictionary