congenital sialidosis type 2
ORPHA: 934001 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| laronidase Orphan Cold Chain | IV infusion, 0.58 mg/mL | FDA Approved, EMA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with congenital sialidosis type 2, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresHearing impairmentLow-set earsCataractDysostosis multiplexEdemaHypotoniaGlobal developmental delayHepatosplenomegalyAscitesCherry red spot of the maculaInguinal herniaAbnormality of the kidneyHydrocephalusStrabismusDevelopmental cataractVisual lossNystagmusOptic atrophyPetechiaeTelangiectasiaSeizureAtaxiaSpasticityDysmetriaMyoclonusUmbilical herniaAbnormal heart morphologyDevelopmental regressionHypoplasia of the foveaCorneal opacityUnderdeveloped supraorbital ridgesRespiratory tract infectionYellow/white retinal lesionGingival overgrowthMacrocephalyHigh foreheadHepatomegalyAbnormal EKGGeneralized hypertrichosisPolydactylyProtruding tongue
Classification & Codes
Orphanet Code
ORPHA:93400congenital sialidosis type 2
| Orphanet | ORPHA:93400 |
| Treatments | 1 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO