Joubert syndrome with orofaciodigital defect
MeSH: C536531ORPHA: 2754
Overview
Joubert syndrome subtype with orofaciodigital defect
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 orofaciodigital defect, sourced from HPO and Orphanet clinical annotations.
Cleft palateLobulated tongueAbnormal oral frenulum morphologyTongue nodulesHigh palateLong faceEpicanthusHypertelorismMicrognathiaConductive hearing impairmentBroad nasal tipEsotropiaNystagmusBrachydactylySyndactylyIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayGait disturbanceGeneralized hypotoniaFailure to thriveGrowth delayFrontal bossingMolar tooth sign on MRIShort statureBiparietal narrowingHypoplasia of olfactory tractBilateral cryptorchidismFeeding difficulties in infancyHamartoma of tongueFinger clinodactylyPreaxial polydactylyRenal agenesisProminent nasal bridgeHand polydactylySeizureCerebellar vermis hypoplasiaTremorAbnormal heart morphologyFoot polydactylyApneaAbnormality of neuronal migrationHypothalamic hamartomaHighly arched eyebrowEpisodic tachypneaCentral Y-shaped metacarpalAplasia/Hypoplasia of the corpus callosumRenal hypoplasia/aplasiaMidline notch of upper alveolar ridgeMesoaxial polydactylyPosteriorly rotated ears
Classification & Codes
MeSH Code
C536531Orphanet Code
ORPHA:2754Joubert syndrome with orofaciodigital defect
| MeSH | C536531 |
| Orphanet | ORPHA:2754 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO