Hurler-Scheie Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation.

**Synonyms:** - MPS I H-S