Scheie syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Scheie syndrome

Alternative Names:

Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS

Symptoms:

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

Signs and tests:

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: 4/20/2005
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.

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