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cerebrooculonasal syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebrooculonasal syndrome

MONDO:0011575

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.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Proboscis, Sparse eyebrow, Broad forehead, and Global developmental delay; and very common findings: Hypertelorism, Postnatal growth retardation, Enlarged brain ventricles (ventriculomegaly), and Optic nerve hypoplasia. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Narrow palate, U-Shaped upper lip vermilion, High palate

Prognosis

Phenotype severity distribution: 4 always present features, 4 very common features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cerebrooculonasal syndrome.

1 publication has been identified in PubMed for cerebrooculonasal syndrome. Research spans Gene Therapy / Novel Therapeutics (100%).

Recent Publications

Hazan F (2025). [PMID: 41404552](https://pubmed.ncbi.nlm.nih.gov/41404552/). *Mol Syndromol*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605627

Orphanet

European rare disease database

Orphanet:66625

GARD

Genetic and Rare Diseases Info Center

GARD:3480

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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cerebrooculonasal syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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