Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Birth weight less than 10th percentile
Always present (100%)HP:0001518
C1-C2 subluxation
Always present (100%)HP:0003320
Craniosyostosis
Always present (100%)HP:0001363
Decreased size of cranium
Always present (100%)HP:0000252
Disease of the heart muscle
Always present (100%)HP:0001638
Flat head
Always present (100%)HP:0001357
Flexion contractures of knees
Always present (100%)HP:0006380
Hunched back
Always present (100%)HP:0002808
Increased iduronate sulfatase level
Always present (100%)HP:0003538
Limitation of joint mobility
Always present (100%)HP:0001376
Low-set ears
Always present (100%)HP:0000369
Lumbar hemivertebrae
Always present (100%)HP:0008439
Pectus carinatum
Always present (100%)HP:0000768
Peripheral motor neuropathy
Always present (100%)HP:0007178
Postnatal failure to thrive
Always present (100%)HP:0001508
Prominent lips
Always present (100%)HP:0012471
Psychomotor development deficiency
Always present (100%)HP:0001263
Sensory neuropathy
Always present (100%)HP:0000763
Severely reduced ejection fraction
Always present (100%)HP:0012666
Spasticity and rigidity of muscles
Always present (100%)HP:0001276
Spondylolisthesis
Always present (100%)HP:0003302
Trigonocephaly
Always present (100%)HP:0000243
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Decreased body height
Very frequent (80-99%)HP:0004322
Deficiency of N-acetylglucosamine-1-phosphotransferase
Very frequent (80-99%)HP:0003264
Finger stiffness
Very frequent (80-99%)HP:0025261
Growth delay as children
Very frequent (80-99%)HP:0008897
Hypertrophy of craniofacial bones
Very frequent (80-99%)HP:0004493
Hypoplastic inferior ilia
Very frequent (80-99%)HP:0008821
Related Conditions
Quick Facts
- SNOMED CT
- 65764006
- UMLS CUI
- C0033788
- Fully Specified Name
- Pseudo-Hurler polydystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.