proboscis
ORPHA: 141099
Overview
facial anomaly
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 proboscis, sourced from HPO and Orphanet clinical annotations.
Abnormal paranasal sinus morphologyProboscisEyelid colobomaMorphological central nervous system abnormalityVentriculomegalySingle narisAbnormal facial skeleton morphologyAbnormal eye morphologyAbnormality of the ocular adnexaAbnormality of the maxillary sinusOrofacial cleftHigh palateMacrocephalyHypertelorismBroad foreheadLong philtrumAbnormal eyebrow morphologyChorioretinal colobomaNasolacrimal duct obstructionOptic nerve hypoplasiaIris colobomaAbnormal nasolacrimal system morphologyAbnormal corpus callosum morphologyHoloprosencephalyExternal genital hypoplasiaCorneal opacityAplasia/Hypoplasia of the maxillaAbnormal location of the eyebrowAbnormal ethmoid bone morphologyAbnormal morphology of bony orbit of skullUnilateral renal agenesisEpicanthusChoanal atresiaMicrocorneaStrabismusPtosisCataractProptosisAnophthalmiaMicrophthalmiaOptic disc colobomaOrbital cystVentricular septal defectPatent ductus arteriosusDuplication of renal pelvisUnilateral narrow palpebral fissureCyclopiaUreteral agenesisAgenesis of canine
Classification & Codes
Orphanet Code
ORPHA:141099proboscis
| Orphanet | ORPHA:141099 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO