Sanfilippo syndrome
MeSH: D009084ORPHA: 581
Overview
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain
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 Sanfilippo syndrome, sourced from HPO and Orphanet clinical annotations.
Chronic otitis mediaDelayed speech and language developmentMalabsorptionCoarse hairGeneralized hirsutismProgressive neurologic deteriorationSleep disturbanceUrinary glycosaminoglycan excretionIntellectual disabilityCentral nervous system degenerationMucopolysacchariduriaSevere intellectual disabilityCoarse facial featuresHearing impairmentOtitis mediaCataractMyopiaSynophrysAtypical behaviorHyperactivityAbnormal rib morphologyAbnormal clavicle morphologyHirsutismAtaxiaHypertoniaGait disturbanceSpecific learning disabilityVocal cord paresisSplenomegalyAbnormal facial shapeHeparan sulfate excretion in urineHepatomegalyIntermittent diarrheaDevelopmental regressionGenu valgumAbnormal form of the vertebral bodiesCraniofacial hyperostosisRecurrent sinopulmonary infectionsRecurrent tonsillitisAbnormal skeletal morphologyRespiratory tract infectionAdenoiditisThick hairBrain imaging abnormalityInguinal herniaMacroglossiaAbnormality of the dentitionHydrocephalusMacrocephalyDolichocephalyThickened helicesConductive hearing impairmentSensorineural hearing impairmentMixed hearing impairmentRod-cone dystrophyPigmentary retinopathyAggressive behaviorDementiaDysostosis multiplexSeizureSpasticityDysarthriaMotor delayFlexion contractureHip dysplasiaJoint stiffnessUmbilical herniaProtuberant abdomenAbnormal mitral valve morphologyAbnormal myocardium morphologyCardiomegalyAbnormal aortic valve morphologyAtrioventricular blockDysphagiaConstipationVentriculomegalyLoss of ambulationScoliosisIncreased susceptibility to fracturesUpper airway obstructionObstructive sleep apneaReduced bone mineral densityAbnormality of the middle ear ossiclesAvascular necrosis of the capital femoral epiphysisHyperactive deep tendon reflexesAbnormal pyramidal signThick nasal alaeAspiration pneumoniaConstrictive median neuropathyThick vermilion borderReduced left ventricular ejection fractionAbnormal temper tantrumsFatigable weakness of swallowing musclesHip painDecreased circulating vitamin D concentrationRetinal degenerationBlindnessOptic atrophyNyctalopiaHyperoralityDisinhibitionConstriction of peripheral visual fieldOpacification of the corneal stromaCorneal opacityAmplification of sexual behavior
Classification & Codes
MeSH Code
D009084Orphanet Code
ORPHA:581Sanfilippo syndrome
| MeSH | D009084 |
| Orphanet | ORPHA:581 |
| Treatments | 0 drug(s) |
| Symptoms on record | 105 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO