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microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

MONDO:0013735

Also known as:microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndromeMCHCCDZaki-Gleeson syndrome

Overview

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.

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: Long eyebrows, Long philtrum, Dystonia, and Profound intellectual disability and 28 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Profound intellectual disability, Intention tremor
Arms and legs

Diagnosis

Biomarker and diagnostic research for microcephaly-cerebellar hypoplasia-cardiac conduction defect 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-cerebellar hypoplasia-cardiac conduction defect syndrome.

302 publications have been identified in PubMed for microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome. Kisho has analyzed 112 by research type. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	38

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614407

Orphanet

European rare disease database

Orphanet:329332

GARD

Genetic and Rare Diseases Info Center

GARD:17502

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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Kisho

microcephaly-cerebellar hypoplasia-cardiac conduction defect 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-cerebellar hypoplasia-cardiac conduction defect 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