Scheie's syndrome


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Related to Scheie's syndrome: Hunter syndrome, Morquio syndrome, Sanfilippo syndrome, Scheie syndrome, Noonan syndrome

Scheie's syndrome

 [shāz]
a type of mucopolysaccharidosis considered to be an atypical form of hurler's syndrome. The principal sign is marked progressive corneal clouding; other signs are hirsutism, joint stiffness, mild bone deformities (often only in the hands), disease of the aorta, and a wide-mouthed face. There is no mental retardation.

Scheie's syndrome

[shāz]
Etymology: Harold Glendon Scheie, American ophthalmologist, 1909-1990
a relatively mild variant of Hurler's syndrome, a heritable mucopolysaccharide storage disease, 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.