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

Rare Disease

oculocerebrodental syndrome

MONDO:0034145

Also known as:Cataracts, Early-Onset, With Skeletal and Dental AnomaliesOCSKDoculoskeletodental syndrome

Overview

GeneticsAutosomal recessive · PIK3C2A (chr 11)

OnsetCONGENITAL

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: Short stature, Coarse facial features, Developmental cataract, and Mucopolysacchariduria and others; and very common findings: Glaucoma. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Short femoral neck, Sideways curvature of the spine (scoliosis), Delayed skeletal maturation

Genetic Landscape

PIK3C2A function has not been fully characterized.

Oculocerebrodental syndrome is associated with mutations in the PIK3C2A gene on chromosome 11.

Diagnosis

Genetic testing for PIK3C2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for oculocerebrodental syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 8 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 oculocerebrodental syndrome.

203 publications have been identified in PubMed for oculocerebrodental syndrome. Kisho has analyzed 133 by research type. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (11%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	90	68%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618440

Orphanet

European rare disease database

Orphanet:557003

GARD

Genetic and Rare Diseases Info Center

GARD:17993

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?

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Kisho

oculocerebrodental syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oculocerebrodental syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications