Hurler-Scheie syndrome

Hurler-Scheie syndrome is a type of rare genetic disorder in which an enzyme deficiency makes the body unable to break down complex carbohydrates in food.

Hurler-Scheie syndrome can cause stiff joints, clouding of the cornea, deafness, intellectual disability, dwarfism, and heart valve disease. However, some people with this disorder have normal intelligence, stature, and life expectancy.

Hurler-Scheie syndrome is a mild form of Hurler syndrome. These syndromes are known as mucopolysaccharidosis (MPS) disorders.

Last Updated: February 10, 2010

Author: Robin Parks, MS

Medical Review: E. Gregory Thompson, MD - Internal Medicine & Stephen Fort, MD, MRCP, FRCPC - Interventional Cardiology

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