Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA: 397715
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with Joubert syndrome with Jeune asphyxiating thoracic dystrophy, sourced from HPO and Orphanet clinical annotations.
Oculomotor apraxiaGeneralized hypotoniaCerebellar hypoplasiaFailure to thriveFrontal bossingVentriculomegalyMolar tooth sign on MRITachypneaHyperechogenic kidneysElongated superior cerebellar peduncleHypospadiasRenal insufficiencyRenal dysplasiaEpicanthusHypertelorismMicrognathiaPosteriorly rotated earsLow-set earsOverfolded helixMyopiaRetinal dystrophyVisual lossShort ribsRenal cortical cystsLong claviclesBrachydactylyGlobal developmental delayAbnormal corpus callosum morphologyDandy-Walker malformationAbnormal cerebellum morphologyCerebellar vermis hypoplasiaAbsent septum pellucidumAbsent speechBell-shaped thoraxGastroesophageal refluxOccipital encephaloceleRecurrent aspiration pneumoniaApneaAbnormal basal ganglia morphologyDysgenesis of the cerebellar vermisRecurrent respiratory infectionsEnlarged cisterna magnaMeningoceleIncreased intracranial pressureSupernumerary nippleElevated circulating hepatic transaminase concentrationAbnormal acetabulum morphologyProximal femoral metaphyseal irregularityShort statureSmall cervical vertebral bodiesRhizomelic arm shorteningThoracic hypoplasiaDepressed nasal bridgeRedundant neck skinChronic lung diseaseWide intermamillary distanceTwelfth rib hypoplasiaAplasia/Hypoplasia involving bones of the thoraxLateral ventricle dilatationDilated third ventricleCervical spinal canal stenosisEarly ossification of capital femoral epiphysesDuane anomalyAbnormal 5th metacarpal morphologyCone-shaped epiphysisShort digitFeeding difficultiesRhizomelic leg shorteningAbnormal optic disc morphologyColpocephalySubretinal depositsPostaxial polydactylyOpen operculum
Classification & Codes
Orphanet Code
ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy
| Orphanet | ORPHA:397715 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO