/Hurler-Scheie syndrome

Hurler-Scheie syndrome

Rare Disease

MONDO:0011759

Also Known As

Hurler-Scheie syndromeMPS I H-SMPS1H/SMPSIH/Smucopolysaccharidosis type 1H/Smucopolysaccharidosis type IH/Smucopolysaccharidosis, mps-I-sHurler–Scheie syndromeMPS1-HSScheie disease mps type 1sScheie's syndromel-iduronidase deficiency, Scheie typemucopolysaccharidosis IH/Smucopolysaccharidosis type I mild formmucopolysaccharidosis type I-Smucopolysaccharidosis type Ih/S

Definition

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.