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

microcephaly-cardiomyopathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-cardiomyopathy syndrome

MONDO:0009618

Also known as:Winship-Viljoen-Leary syndromemicrocephaly with cardiomyopathymicrocephaly-cardiomyopathy

Overview

A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.

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: Microcephaly, Clinodactyly of the 5th finger, Sandal gap, and Intellectual disability and 1 more.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Arms and legs

Diagnosis

Biomarker and diagnostic research for microcephaly-cardiomyopathy 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 microcephaly-cardiomyopathy syndrome.

154 publications have been identified in PubMed for microcephaly-cardiomyopathy syndrome. Research spans Review / Meta-Analysis (59%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	91	59%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:251220

Orphanet

European rare disease database

Orphanet:2515

GARD

Genetic and Rare Diseases Info Center

GARD:3609

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?

← Back to All Diseases

Kisho

microcephaly-cardiomyopathy 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

microcephaly-cardiomyopathy 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