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polysyndactyly-cardiac malformation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polysyndactyly-cardiac malformation syndrome

MONDO:0009900

Also known as:Bonneau syndromepolysyndactyly cardiac malformationpolysyndactyly with CARDIAC malformation

Overview

Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).

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 sometimes findings: Small nail, Anteverted nares, and Hypertelorism. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Ventricular septal defect, Atrial septal defect
Arms and legs

Diagnosis

Biomarker and diagnostic research for polysyndactyly-cardiac malformation 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 polysyndactyly-cardiac malformation syndrome.

32 publications have been identified in PubMed for polysyndactyly-cardiac malformation syndrome. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Research Type	Count	% of Total
Patient case studies	12	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:263630

Orphanet

European rare disease database

Orphanet:2934

GARD

Genetic and Rare Diseases Info Center

GARD:4428

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

polysyndactyly-cardiac malformation 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

polysyndactyly-cardiac malformation 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