Hurler-Scheie syndrome

Orpha code: 93476OMIM code: 607015

Definition

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

Disease data
Classification

Clinical subtype

Synonyms
MPS1H/S
MPS1H/S
MPSIH/S
Mukopolisacharydoza typu 1H/S
Mukopolisacharydoza typu IH/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
Mucopolysaccharidosis type IH/S
ORPHA code
93476
OMIM code
607015
ICD10 code
E76.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl