Joubert syndrome with ocular defect
ORPHA: 220493
Overview
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy
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 ocular defect, sourced from HPO and Orphanet clinical annotations.
StrabismusPtosisVisual lossIris colobomaAbnormality of the hypothalamus-pituitary axisHand polydactylySeizureAgenesis of corpus callosumTremorDextrocardiaFoot polydactylyEncephalocelePolymicrogyriaAganglionic megacolonHighly arched eyebrowScoliosisAbnormal vertebral morphologyAbnormal cardiovascular system morphologyRetinal dystrophyOculomotor apraxiaIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayCerebellar vermis hypoplasiaApneaMolar tooth sign on MRIAbnormal pattern of respirationLong faceNystagmusGait disturbanceBiparietal narrowingFeeding difficultiesCleft palateOrofacial cleftHydrocephalusPosteriorly rotated earsProminent nasal bridgeAnteverted naresRetinal coloboma
Classification & Codes
Orphanet Code
ORPHA:220493Joubert syndrome with ocular defect
| Orphanet | ORPHA:220493 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO