Mannosidosis
MeSH: D044904ORPHA: 61
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 Mannosidosis, sourced from HPO and Orphanet clinical annotations.
MacroglossiaCoarse facial featuresHearing impairmentCataractIntellectual disabilityGlobal developmental delaySplenomegalyHepatomegalySkeletal dysplasiaDelayed skeletal maturationCraniofacial hyperostosisDepressed nasal bridgeType II diabetes mellitusCorneal opacityHypoplastic inferior iliaInguinal herniaNarrow palateGingival overgrowthHypertelorismProminent supraorbital ridgesChronic otitis mediaMacrotiaShort neckAtypical behaviorHypotoniaHip dysplasiaScoliosisKyphosisBowing of the long bonesOpen biteAbnormal helix morphologyGeneralized abnormality of skinMacrocephalyMandibular prognathiaWidely spaced teethDental malocclusionHallucinationsArthritisRecurrent respiratory infectionsIncreased intracranial pressureAvascular necrosisSynostosis of joints
Classification & Codes
MeSH Code
D044904Orphanet Code
ORPHA:61Mannosidosis
| MeSH | D044904 |
| Orphanet | ORPHA:61 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO