Joubert syndrome with renal defect
MeSH: C536296ORPHA: 220497
Overview
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy
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 renal defect, sourced from HPO and Orphanet clinical annotations.
NephropathyOculomotor apraxiaIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayCerebellar vermis hypoplasiaApneaMolar tooth sign on MRIAbnormal pattern of respirationLong facePosteriorly rotated earsNystagmusGait disturbanceBiparietal narrowingFeeding difficultiesRenal insufficiencyCleft palateOrofacial cleftHydrocephalusProminent nasal bridgeAnteverted naresStrabismusPtosisIris colobomaAbnormality of the hypothalamus-pituitary axisHand polydactylySeizureAgenesis of corpus callosumTremorEncephalocelePolymicrogyriaAganglionic megacolonHighly arched eyebrowScoliosisAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C536296Orphanet Code
ORPHA:220497Joubert syndrome with renal defect
| MeSH | C536296 |
| Orphanet | ORPHA:220497 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO