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Hurler-Scheie syndrome
rareHurler-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.
- Identifiers
- MONDO:0011759 OMIM:607015Orphanet:93476
- Causal genes
- IDUA
- Part of
- Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 1Syndromic disease
- Also known as
- Hurler–Scheie syndrome · MPS I H-S · MPS1-HS · MPS1H/S · MPSIH/S
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