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cerebellar ataxia-ectodermal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebellar ataxia-ectodermal dysplasia syndrome

MONDO:0008934

Also known as:cerebellar ataxia - ectodermal dysplasiacerebellar ataxia and ectodermal dysplasiaectodermal dysplasia and cerebellar ataxia

Find Clinical TrialsTrials

Overview

Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.

Clinical Trials1 registered · 1 recruiting

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

40 publications have been identified in PubMed for cerebellar ataxia-ectodermal dysplasia syndrome. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	23

Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 8:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212835

Orphanet

European rare disease database

Orphanet:1174

GARD

Genetic and Rare Diseases Info Center

GARD:1189

Questions for Your Care Team

→Are any of the 1 active clinical trial 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

cerebellar ataxia-ectodermal dysplasia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Epidemiology of progressive cerebellar ataxia in South Yorkshire, UK.

Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).

A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report.

cerebellar ataxia-ectodermal dysplasia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Epidemiology of progressive cerebellar ataxia in South Yorkshire, UK.

Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).

A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report.