Hurler–Scheie syndrome

ORPHA: 93476

Contents

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

Overview

MPS - I H/S: cutaneous condition, also characterized by mild mental retardation and corneal clouding

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 Hurler–Scheie syndrome, sourced from HPO and Orphanet clinical annotations.

Coarse facial featuresSensorineural hearing impairmentLimitation of joint mobilityCardiomyopathyAbnormal heart valve morphologySplenomegalyGeneralized hirsutismHepatomegalySkeletal dysplasiaSpinal canal stenosisAbnormal vertebral morphologyShort statureAbnormal pyramidal signCorneal opacityRhinitisAbnormal nerve conduction velocityAbnormality of the tonsilsHernia

Classification & Codes

Orphanet Code

ORPHA:93476

Hurler–Scheie syndrome

Orphanet	`ORPHA:93476`
Treatments	0 drug(s)
Symptoms on record	18 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO