Hurler-Scheie syndrome
Findings
No curated finding names Hurler-Scheie syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011759), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- Contracture of the distal interphalangeal joint of the fingersHPOHP:0009697
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Dermatan sulfate excretion in urineHPOHP:0008301
- 1 of 1 reported patient
- Dysostosis multiplexHPOHP:0000943
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hand pain
Show the remaining 17
- Abnormal heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Very frequent (80% to 99% of cases)
- Abnormality of the tonsilsHPOHP:0100765
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IDUAHGNC:5391
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Hurler-Scheie syndrome
- Also called
- MPS I H-SMPS1H/SMPSIH/Smucopolysaccharidosis type 1H/Smucopolysaccharidosis type IH/Smucopolysaccharidosis, mps-I-s