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oculocerebral hypopigmentation syndrome, Cross type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocerebral hypopigmentation syndrome, Cross type

MONDO:0009767

Also known as:Cross syndromeOculocerebral Syndrome with HypopigmentationKramer syndrome

Find Clinical TrialsTrials

Overview

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

GeneticsAutosomal recessive

Clinical Trials21 registered

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: Intellectual disability, Abnormal palate morphology, Thin skin, and Short stature; and common findings: Spasticity, Growth delay, Abnormality of the eye, and Cryptorchidism and others. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Spasticity, Intellectual disability, Ataxia

Prognosis

Phenotype severity distribution: 4 very common features, 27 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.

21 clinical trials registered. Interventions under study include other interventions and procedural interventions. Pipeline includes 19 NA. Research is primarily sponsored by academic and government institutions.

23 publications have been identified in PubMed for oculocerebral hypopigmentation syndrome, Cross type. Research spans Clinical Trial Publication (39%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (22%).

Research Type	Count	% of Total
Clinical study results	9

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257800

Orphanet

European rare disease database

Orphanet:2719

GARD

Genetic and Rare Diseases Info Center

GARD:105

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 21 active clinical trials a good fit for my situation?
→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

oculocerebral hypopigmentation syndrome, Cross type

Overview

Clinical Presentation

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

oculocerebral hypopigmentation syndrome, Cross type

Overview

Clinical Presentation

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