fucosidosis

MeSH: D005645ORPHA: 3491 Treatment Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Human disease

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
alpha-L-iduronidase Orphan Cold Chain	IV infusion, 0.58 mg/mL	FDA Approved, EMA Approved	8	14d

Clinical Presentation

Signs and symptoms associated with fucosidosis, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionBrachycephalyCoarse facial featuresHearing impairmentHypothyroidismDysostosis multiplexHyperhidrosisAcrocyanosisSeizureHypotoniaSpasticityGlobal developmental delayFailure to thriveAbnormal nail morphologyAbnormality of the cardiovascular systemCardiomegalyAbnormal facial shapeHepatomegalySpastic tetraplegiaKyphosisDecreased muscle massAbnormality of the gallbladderGeneralized hyperkeratosisAbnormal pyramidal signCorneal opacityMucopolysacchariduriaAnterior beaking of lumbar vertebraeSevere intellectual disabilityProminent foreheadVascular skin abnormalityLipoatrophy

Classification & Codes

MeSH Code

D005645

Orphanet Code

ORPHA:349

fucosidosis

MeSH	`D005645`
Orphanet	`ORPHA:349`
Treatments	1 drug(s)
Symptoms on record	31 signs
Status	published

Treatment Summary

alpha-L-iduronidase· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO