Scheie syndrome
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Schei·e syn·drome
(shā), [MIM*252800]allelic to Hurler syndrome but with a much milder phenotype; characterized by α-l-iduronidase deficiency, corneal clouding, deformity of the hands, aortic valve involvement, and normal intelligence; autosomal recessive inheritance, caused by mutation in the alpha-l-iduronidase gene (IUDA) on chromosome 4p.
Synonym(s): mucopolysaccharidosis type IS
Schei·e syn·drome
(shā), [MIM*252800]allelic to Hurler syndrome but with a much milder phenotype; characterized by α-l-iduronidase deficiency, corneal clouding, deformity of the hands, aortic valve involvement, and normal intelligence; autosomal recessive inheritance, caused by mutation in the alpha-l-iduronidase gene (IUDA) on chromosome 4p.
Synonym(s): mucopolysaccharidosis type IS
Farlex Partner Medical Dictionary © Farlex 2012
Scheie syndrome
(shī)n.
A type of mucopolysaccharidosis (MPS IH) characterized by the presence of dermatan sulfate and heparan sulfate in the urine, corneal clouding, deformity of the hands, and stiff joints.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
Scheie syndrome
Alpha-l-iduronidase deficiency, mucopolysaccharidosis type IS An AR condition in which a deficit of l-iduronidase results in inefficient degradation and intracellular accumulation of mucopolysaccharides; involvement is less severe than MPS type IH–Hurler syndrome Clinical SS is manifest in early childhood as short, coarse features, a broad mouth with full lips, inguinal hernias, cataracts, hepatosplenomegaly, aortic incompetence, stiff joints, with development of claw hands and deformed feet, clouding of cornea, prolonged survival Lab ↑ dermatan sulfate in urineMcGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Scheie syn·drome
(shā sin'drōm)Allelic to Hurler syndrome but with a much milderphenotype; characterized by α-l-iduronidase deficiency, corneal clouding, deformity of the hands, aortic valve involvement, and normal intelligence; autosomal recessive inheritance, caused by mutation in the alpha-l-iduronidase gene (IUDA) on chromosome 4p.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Scheie,
Harold Glendon, U.S. ophthalmologist, 1909-1990.Scheie blade
Scheie cannula
Scheie cataract aspiration
Scheie cautery
Scheie electrocautery
Scheie knife
Scheie needle
Scheie operation
Scheie syndrome - error of mucopolysaccharide related to Hurler syndrome. Synonym(s): type IS mucopolysaccharidosis
Scheie trephine
Medical Eponyms © Farlex 2012
Scheie syn·drome
(shā sin'drōm) [MIM*252800]Allelic to Hurler syndrome but with a milder phenotype; characterized by α-l-iduronidase deficiency, corneal clouding, deformity of hands, aortic valve involvement, and normal intelligence.
Medical Dictionary for the Dental Professions © Farlex 2012