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patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

MONDO:0011454

Also known as:patent arterial duct-bicuspid aortic valve-hand anomalies syndromepatent ductus arteriosus and bicuspid aortic valve with hand anomalies

Overview

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.

GeneticsAutosomal dominant

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 always present findings: Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, and Abnormal hand morphology; and very common findings: Short 5th metacarpal, Clinodactyly of the 5th finger, and Short digit. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Short finger, Clinodactyly of the 5th finger, Short toe

Diagnosis

Biomarker and diagnostic research for patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 3 very common features.

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 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome.

21 publications have been identified in PubMed for patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome. Research spans Case Report / Case Series (75%), Epidemiology / Natural History (10%), and Diagnostic / Biomarker (5%).

Research Type	Count	% of Total
Patient case studies	15	75%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 1:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604381

Orphanet

European rare disease database

Orphanet:228190

GARD

Genetic and Rare Diseases Info Center

GARD:17148

Questions for Your Care Team

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Kisho

patent ductus arteriosus-bicuspid aortic valve-hand anomalies 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

patent ductus arteriosus-bicuspid aortic valve-hand anomalies 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