Scheie syndrome

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Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS

• A family 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

• Inguinal hernia
• Umbilical hernia
• Hepatomegaly
• Prognathism
• Corneal clouding
• Retinal pigmentation
• Hearing loss
• Aortic regurgitation
• Blindness

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

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.