mucosulfatidosis
MeSH: D052517ORPHA: 585
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 mucosulfatidosis, sourced from HPO and Orphanet clinical annotations.
HydrocephalusMicrocephalyMacrocephalyCoarse facial featuresSmooth philtrumSensorineural hearing impairmentAnteverted naresVisual impairmentCataractThick eyebrowOptic atrophyIntellectual disabilitySeizureGlobal developmental delayNeonatal hypotoniaJoint stiffnessSplenomegalyCoarse hairHepatomegalyDevelopmental regressionAbnormality of peripheral nerve conductionShort statureDepressed nasal bridgeRapid neurologic deteriorationAbnormal retinal pigmentationCorneal opacityIchthyosisMucopolysacchariduriaBroad hallux phalanxBroad thumb
Classification & Codes
MeSH Code
D052517Orphanet Code
ORPHA:585mucosulfatidosis
| MeSH | D052517 |
| Orphanet | ORPHA:585 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO