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Scheie syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Scheie syndrome

Alternative Names:

Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS
Symptoms:

Afamily history of Scheie syndrome
Coarsened facial features
Stiffness or limitation of motion in some joints, for example, claw hands
Increased body hair (hirsutism )
Broad mouth with full lips
Cloudy cornea and progressive loss of vision resulting in blindness
Prognathism
Normal intelligence, stature and life span

Signs and tests:

Tests:

X-ray of the skeleton
Echocardiogram may show thickened and narrowed or leaky aortic valve
Urine dermatan sulfate may be increased
Culture - skin fibroblasts (or white blood cells) for enzyme assay of alpha-L-iduronidase activity

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