Scheie syndrome
ORPHA: 93474
Overview
mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan
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 Scheie syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthEverted lower lip vermilionCoarse facial featuresSensorineural hearing impairmentGlaucomaAbnormality of the skeletal systemLimitation of joint mobilityJoint stiffnessAortic regurgitationSplenomegalyHepatomegalySpastic paraparesisCorneal opacityMucopolysacchariduriaRhinitisThick vermilion borderAbnormal nerve conduction velocityCerebral palsy
Classification & Codes
Orphanet Code
ORPHA:93474Scheie syndrome
| Orphanet | ORPHA:93474 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO