Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spinocerebellar ataxia-dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia-dysmorphism syndrome

MONDO:0010062

Also known as:spinocerebellar ataxia with dysmorphism

Overview

Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.

Diagnosis

Biomarker and diagnostic research for spinocerebellar ataxia-dysmorphism 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 spinocerebellar ataxia-dysmorphism syndrome.

136 publications have been identified in PubMed for spinocerebellar ataxia-dysmorphism syndrome. Research spans Case Report / Case Series (25%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	34	25%

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 10:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271270

Orphanet

European rare disease database

Orphanet:1185

GARD

Genetic and Rare Diseases Info Center

GARD:4958

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

spinocerebellar ataxia-dysmorphism 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