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Scheie syndrome

Pronunciation: sha

Definition: allelic to Hurler syndrome but with a much milder phenotype; characterized by a-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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.