Hurler-Scheie syndrome
ICD-10 Code
E76.02
Hurler-Scheie syndrome
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.
Also known as Hurler-Scheie syndrome, MPS I H-S, MPS1H/S, MPSIH/S, mucopolysaccharidosis type 1H/S, mucopolysaccharidosis type IH/S, mucopolysaccharidosis, mps-I-s — per MONDO