orofaciodigital syndrome type 14
ORPHA: 434179
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 orofaciodigital syndrome type 14, sourced from HPO and Orphanet clinical annotations.
EpispadiasCleft palateLobulated tongueAccessory oral frenulumTrigonocephalyMicrocephalyMicroretrognathiaSloping foreheadPosteriorly rotated earsBulbous noseWebbed neckShort neckRetinal colobomaTelecanthusUpslanted palpebral fissurePostaxial hand polydactylyIntellectual disabilityHypotoniaGlobal developmental delayDandy-Walker malformationPartial agenesis of the corpus callosumVentricular septal defectPatent ductus arteriosusPostaxial foot polydactylyAbnormal facial shapeHypoplasia of the corpus callosumDilated fourth ventricleMolar tooth sign on MRIDilated third ventriclePeriventricular heterotopiaBilateral cryptorchidismAplasia of the epiglottisDeviation of the halluxBroad halluxDuplication of phalanx of halluxBifid tongueSleep apneaSupernumerary toothGastrostomy tube feeding in infancyHamartoma of tongueAbnormal myelinationOpen operculum
Classification & Codes
Orphanet Code
ORPHA:434179orofaciodigital syndrome type 14
| Orphanet | ORPHA:434179 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO