Hurler syndrome
ORPHA: 93473
Overview
genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase
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 Hurler syndrome, sourced from HPO and Orphanet clinical annotations.
MacroglossiaEverted lower lip vermilionHydrocephalusDolichocephalyCoarse facial featuresFull cheeksHearing impairmentWide nasal bridgeAnteverted naresShort neckRetinopathyGlaucomaThick eyebrowDepressionAbnormal rib morphologyHypertensionAbnormal clavicle morphologyAbnormality of the skeletal systemAbnormal diaphysis morphologyAbnormality of skin pigmentationIntellectual disabilityHypotoniaGlobal developmental delayLimitation of joint mobilityGrowth delayCardiomyopathyAbnormal heart valve morphologyAngina pectorisEndocardial fibroelastosisSplenomegalyFrontal bossingChronic diarrheaRecurrent respiratory infectionsGeneralized hirsutismHepatomegalySpastic paraparesisSleep disturbanceScoliosisSkeletal dysplasiaNarrow pelvis boneSpinal canal stenosisAbnormal vertebral morphologyShort statureDepressed nasal bridgeAbnormal epiphysis morphologyAbnormal pyramidal signCorneal opacityMucopolysacchariduriaAbnormality of the elbowFeeding difficultiesRhinitisThick vermilion borderAbnormal nerve conduction velocityCerebral palsyCamptodactyly of fingerLarge faceAbnormality of the tonsilsHernia
Classification & Codes
Orphanet Code
ORPHA:93473Hurler syndrome
| Orphanet | ORPHA:93473 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO