mucopolysaccharidosis I
MeSH: D008059ORPHA: 579
Overview
lysosomal storage disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mucopolysaccharidosis I, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaThick lower lip vermilionGingival overgrowthEverted lower lip vermilionHydrocephalusSinusitisMacrocephalyDolichocephalyAbnormality of the faceCoarse facial featuresFull cheeksLow anterior hairlineHearing impairmentChronic otitis mediaSensorineural hearing impairmentRetinopathyGlaucomaVisual impairmentOptic atrophyWidely spaced teethMicrodontiaAbnormal metaphysis morphologySplit handIntellectual disabilityJoint dislocationJoint stiffnessAbnormality of the voiceCongestive heart failureHypertrophic cardiomyopathyAbnormal aortic valve morphologyAbnormal heart valve morphologySplenomegalyMalabsorptionApneaRecurrent respiratory infectionsGeneralized hirsutismDevelopmental regressionScoliosisArthralgiaAbnormal hip bone morphologyAbnormal form of the vertebral bodiesParesthesiaSpinal canal stenosisShort statureHemiplegia/hemiparesisAbnormal nasal morphologyDepressed nasal bridgeAbnormal epiphysis morphologyCorneal opacityMucopolysacchariduriaThick nasal alaeAvascular necrosisCoughAbnormal tendon morphologyEnlarged thoraxAbnormality of the tonsilsHernia
Classification & Codes
MeSH Code
D008059Orphanet Code
ORPHA:579mucopolysaccharidosis I
| MeSH | D008059 |
| Orphanet | ORPHA:579 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO