Knobloch syndrome
MeSH: C537209ORPHA: 1571
Overview
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele
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 Knobloch syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityRetinal detachmentMyopiaMacular degenerationCalvarial skull defectOccipital encephaloceleHydrocephalusProgressive visual lossVisual lossNystagmusAbnormal vitreous humor morphologyVitreoretinopathyVesicoureteral refluxEpicanthusStrabismusCataractEctopia lentisSeizureAbnormal hair morphologyPatent ductus arteriosusDextrocardiaPyloric stenosisDepressed nasal bridgeMidface retrusionBifid ureterLymphangioma
Classification & Codes
MeSH Code
C537209Orphanet Code
ORPHA:1571Knobloch syndrome
| MeSH | C537209 |
| Orphanet | ORPHA:1571 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO