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 ?
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.
Hopwood's work offers real hope to patient's with Hurler, Hurler-Scheie, and Scheie syndromes," stated Richard F Selden, MD, PhD, president and chief executive officer of Transkaryotic.