mucopolysaccharidosis II
MeSH: D016532ORPHA: 580
Overview
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase
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 II, sourced from HPO and Orphanet clinical annotations.
MacrocephalyCoarse facial featuresLimitation of joint mobilityAbnormal heart morphologyShort statureInguinal herniaMacroglossiaGingival overgrowthFull cheeksConductive hearing impairmentSensorineural hearing impairmentRetinopathyRetinal degenerationAtypical behaviorDecreased nerve conduction velocityDysostosis multiplexMental deteriorationGrowth delayUmbilical herniaHoarse voiceAbnormal heart valve morphologySplenomegalyChronic diarrheaHeparan sulfate excretion in urineHepatomegalyProgressive neurologic deteriorationSleep disturbanceDevelopmental regressionRecurrent upper respiratory tract infectionsIrregularity of vertebral bodiesContractures of the large jointsSleep-wake cycle disturbancePeripheral visual field lossDermatan sulfate excretion in urineSleep apneaThick vermilion borderFlexion contracture of digitEnlarged tonsilsCognitive impairmentRecurrent ear infectionsProminent supraorbital ridgesOtosclerosisWide nasal bridgeWide noseOptic atrophyHyperactivityPapilledemaGlobal developmental delayCommunicating hydrocephalusHip dysplasiaAbnormal mitral valve morphologyCardiomyopathyAbnormal pulmonary valve morphologyAbnormal aortic morphologyAbnormal tricuspid valve morphologySpinal cord compressionUpper airway obstructionMuscle stiffnessAbnormal retinal pigmentationCorneal opacityHip osteoarthritisAbnormal epiphyseal ossificationConstrictive median neuropathyTemporomandibular joint ankylosisAbnormal full-field electroretinogramAbnormal nasal mucus secretionAggressive behaviorHypertensionLarge central visual field defectSeizureArrhythmiaAbnormal temper tantrumsImpulsivity
Classification & Codes
MeSH Code
D016532Orphanet Code
ORPHA:580mucopolysaccharidosis II
| MeSH | D016532 |
| Orphanet | ORPHA:580 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO