Hurler-Scheie syndrome

Hurler-Scheie syndrome (MPS I H S) is a rare, inherited metabolic disorder affecting connective tissue. It is a variant of Hurler syndrome and Scheie syndrome, both caused by a defect in the enzyme alpha-L-iduronidase. This enzyme is crucial for the development of connective tissues.

While Hurler syndrome is associated with intellectual disability and dwarfism, and Scheie syndrome is a milder form with normal intelligence and height, Hurler-Scheie syndrome presents with dwarfism, progressive blindness, deafness, and heart failure. Individuals with this condition typically have a reduced life span due to these severe health issues.1