Joubert syndrome with oculorenal defect
MeSH: C537430ORPHA: 2318
Overview
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease
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 Joubert syndrome with oculorenal defect, sourced from HPO and Orphanet clinical annotations.
NephropathyRetinal dystrophyIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayCerebellar vermis hypoplasiaApneaMolar tooth sign on MRITachypneaLong faceVisual impairmentPtosisChorioretinal colobomaIris colobomaBlindnessNystagmusAtypical behaviorAutistic behaviorBiparietal narrowingRenal insufficiencyHydrocephalusProminent nasal bridgeAnteverted naresStrabismusAbnormality of the hypothalamus-pituitary axisHand polydactylySeizureFoot polydactylyEncephaloceleAganglionic megacolonAbnormality of neuronal migrationHighly arched eyebrowScoliosisAplasia/Hypoplasia of the corpus callosumAbnormal cardiovascular system morphologyPosteriorly rotated ears
Classification & Codes
MeSH Code
C537430Orphanet Code
ORPHA:2318Joubert syndrome with oculorenal defect
| MeSH | C537430 |
| Orphanet | ORPHA:2318 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO