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corneal-cerebellar syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal-cerebellar syndrome

MONDO:0010063

Also known as:Der Kaloustian-Jarudi-Khoury syndromespinocerebellar degeneration-corneal dystrophy syndromecorneal dystrophy with spinocerebellar Degeneration

Overview

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.

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 common findings: Clouding of the cornea (corneal dystrophy), Ataxia, Spinocerebellar tract degeneration, and Visual impairment and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Opacification of the corneal stroma, Corneal stromal edema, Clouding of the cornea (corneal dystrophy)

Diagnosis

Biomarker and diagnostic research for corneal-cerebellar syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 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 corneal-cerebellar syndrome.

300 publications have been identified in PubMed for corneal-cerebellar syndrome. Kisho has analyzed 112 by research type. Research spans Review / Meta-Analysis (70%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	78	70%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:24 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271310

Orphanet

European rare disease database

Orphanet:3177

GARD

Genetic and Rare Diseases Info Center

GARD:1525

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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corneal-cerebellar 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

corneal-cerebellar 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