Cerebrooculonasal syndrome
MeSH: C565313ORPHA: 66625
Overview
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.
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 Cerebrooculonasal syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsBrachycephalyHypertelorismBroad foreheadAnophthalmiaUpslanted palpebral fissureBlindnessAbnormal nostril morphologyUnderdeveloped supraorbital ridgesProminent foreheadLarge faceHigh palateEpicanthusLong philtrumMacrotiaSparse eyelashesWidely spaced teethMicrodontiaPostaxial hand polydactylyIntellectual disabilityTessier cleftSolitary median maxillary central incisorHypoplasia of penisAbnormal tragus morphologyAbnormal nervous system morphologySparse eyebrowU-Shaped upper lip vermilion
Classification & Codes
MeSH Code
C565313Orphanet Code
ORPHA:66625Cerebrooculonasal syndrome
| MeSH | C565313 |
| Orphanet | ORPHA:66625 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO