OrphanDrug
OrphanDrug
Pharma Knowledge Base

mucopolysaccharidosis VI

ICD-10: E76.2MeSH: D009087ORPHA: 583

Contents

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

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 mucopolysaccharidosis VI, sourced from HPO and Orphanet clinical annotations.

Abnormal cardiovascular system morphologyThick lower lip vermilionSinusitisCoarse facial featuresChronic otitis mediaAbnormal metaphysis morphologyJoint stiffnessFailure to thriveEpiphyseal dysplasiaRecurrent upper respiratory tract infectionsDisproportionate short-trunk short statureOpacification of the corneal stromaMucopolysacchariduriaThick nasal alaeHearing impairmentShort neckBroad ribsSplenomegalyKyphosisGenu valgumOvoid vertebral bodiesHerniaMacroglossiaVisual impairmentAbnormal heart valve morphologyCognitive impairment

Classification & Codes

ICD-10 Code

E76.2

MeSH Code

D009087

Orphanet Code

ORPHA:583
mucopolysaccharidosis VI
ICD-10E76.2
MeSHD009087
OrphanetORPHA:583
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO