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Sly syndrome

MeSH: D016538ORPHA: 584

Contents

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

Overview

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans

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 Sly syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaCoarse facial featuresShort neckLymphedemaIntellectual disabilityHypotoniaJoint stiffnessUmbilical herniaAscitesSplenomegalyHydrops fetalisMetatarsus adductusAbnormal pleura morphologyRecurrent respiratory infectionsScoliosisAbnormal hip bone morphologyAnterior beaking of lower thoracic vertebraeDiaphyseal undertubulationCorneal opacityMucopolysacchariduriaAnterior beaking of lumbar vertebraeEpiphyseal stipplingHepatitisFlat faceArteriovenous malformationEnlarged thorax

Classification & Codes

MeSH Code

D016538

Orphanet Code

ORPHA:584
Sly syndrome
MeSHD016538
OrphanetORPHA:584
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO