Scheie syndrome


Scheie syndrome
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 death
Scheie Harold Glendon (1909-1990)
American ophthalmologist. Throughout his medical career Scheie was associated with the hospital and medical school of the University of Pennsylvania in Philadelphia. He described Scheie syndrome in 1962.

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a relatively mild allelic variant of Hurler syndrome and the mildest of the three allelic disorders of mucopolysaccharidosis I, characterized by corneal clouding, claw hand, involvement of the aortic valve, somewhat coarse facies with a broad mouth, genu valgum, and pes cavus. Stature, intelligence, and life span are normal; it is caused by a deficiency of L-iduronidase. Called also mucopolysaccharidosis IS; formerly called mucopolysaccharidosis V.

Medical dictionary. 2011.

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  • 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

  • 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 Scheie syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia,… …   Wikipedia

  • 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

  • Syndrome, Hurler — 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

  • Scheie's syndrome — ▪ pathology also called  Mucopolysaccharidosis I S , or  Mps I S        uncommon hereditary metabolic disease characterized by clawing of the hands, corneal clouding, incompetence of the aortic valve of the heart, and painful nerve compression in …   Universalium

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

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary