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.

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.

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.

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 urine

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.

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

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.
References in periodicals archive ?
Deficiency of this enzyme results into a wide range of phenotypes including Hurler syndrome, Hurler-Scheie syndrome (OMIM 607015) and Scheie syndrome (OMIM 607016), severe, intermediate and mild forms, respectively (3).
Scheie syndrome presents with symptoms much later and slower disease progression (6).
Furthermore, molecular analysis of the IDUA gene showed a mutation known in severe phenotypes and other mutation not reported previously in a patient with Scheie syndrome.