autosomal recessive Stickler syndrome
ORPHA: 250984
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 autosomal recessive Stickler syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentEpiphyseal dysplasiaHigh myopiaFlat faceMalar flatteningMicrognathiaCataractMyopiaJoint hypermobilityArthralgiaIrregular vertebral endplatesAbnormal vitreous humor morphologyAbnormal epiphysis morphologyVitreoretinopathyMidface retrusionHigh palateRetinal detachmentPlatyspondylyScoliosisSpondyloepiphyseal dysplasiaBroad femoral neckLattice retinal degenerationCleft palate
Classification & Codes
Orphanet Code
ORPHA:250984autosomal recessive Stickler syndrome
| Orphanet | ORPHA:250984 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO