Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

oculo-palato-cerebral syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculo-palato-cerebral syndrome

MONDO:0009769

Also known as:oculo-palato-cerebral dwarfismOPC dwarfismoculopalatocerebral dwarfism

Overview

Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.

GeneticsAutosomal recessive

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 very common findings: Microphthalmia and Asthma; and common findings: Cleft palate, Microcephaly, Remnants of the hyaloid vascular system, and Short stature and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Spasticity, Intellectual disability, Global developmental delay

Prognosis

Phenotype severity distribution: 2 very common features, 19 common features.

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257910

Orphanet

European rare disease database

Orphanet:2714

GARD

Genetic and Rare Diseases Info Center

GARD:16606

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

oculo-palato-cerebral syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features