Scheie syndrome

Orpha code: 93474OMIM code: 607016

Definition

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Disease data
Classification

Clinical subtype

Synonyms
MPS1S
MPS1S
MPSIS
Mukopolisacharydoza typu 1S
Mukopolisacharydoza typu IS
MPSIS
Mucopolysaccharidosis type 1S
Mucopolysaccharidosis type IS
ORPHA code
93474
OMIM code
607016
ICD10 code
E76.0
ICD11 code
-

No additional description.

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