cerebrooculonasal syndrome
MONDO:0011575Mondo
Findings
No curated finding names cerebrooculonasal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011575), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad foreheadHPOHP:0000337
- 20 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 20 of 20 reported patients
- ProboscisHPOHP:0012806
- 20 of 20 reported patients
- Sparse eyebrowHPOHP:0045075
- 20 of 20 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 19 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Optic nerve hypoplasiaHPOHP:0000609
- 6 of 7 reported patients
Show the remaining 30
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Underdeveloped supraorbital ridgesHPOHP:0009891
- Very frequent (80% to 99% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- 16 of 20 reported patients
- Abnormal nervous system morphologyHPOHP:0012639
- Frequent (30% to 79% of cases)
- Abnormal tragus morphologyHPOHP:0009912
- Frequent (30% to 79% of cases)