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

Rare Disease

oculocerebrocutaneous syndrome

MONDO:0008108

Also known as:Delleman syndromeDelleman-Oorthuys syndromeLeichtman-Wood-Rohn syndrome

Overview

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.

GeneticsSporadic (not inherited)

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: Orbital cyst, Cleft palate, Congenital hip dislocation, and Alopecia and 16 more.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Cleft ala nasi, Facial asymmetry
Brain and nerves

Diagnosis

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

Prognosis

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 oculocerebrocutaneous syndrome.

125 publications have been identified in PubMed for oculocerebrocutaneous syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (16%), and Case Report / Case Series (6%).

Research Type	Count	% of Total
Research summaries	84	67%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164180

Orphanet

European rare disease database

Orphanet:1647

GARD

Genetic and Rare Diseases Info Center

GARD:106

Questions for Your Care Team

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

Overview

Clinical Presentation

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

oculocerebrocutaneous syndrome

Overview

Clinical Presentation

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