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heart-hand syndrome type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heart-hand syndrome type 3

MONDO:0007702

Also known as:Cardiomelic syndrome type 3atriodigital dysplasia type 3heart-hand syndrome, Spanish type

Overview

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.

GeneticsAutosomal dominant

ResearchLimited published research (3 articles)

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: Brachydactyly, Sick sinus syndrome, Ulnar deviation of the 2nd finger, and Short middle phalanx of finger and 1 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Ulnar deviation of the 2nd finger, Short middle phalanx of finger

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 heart-hand syndrome type 3.

3 publications have been identified in PubMed for heart-hand syndrome type 3. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Weaver DJ (2025). [PMID: 39480394](https://pubmed.ncbi.nlm.nih.gov/39480394/). *J Hand Surg Am*. [Epidemiology / Natural History]
Adeleye AO (2025). [PMID: 42035353](https://pubmed.ncbi.nlm.nih.gov/42035353/). *West Afr J Med*. [Case Report / Case Series]
Stanworth M (2024). [PMID: 39480826](https://pubmed.ncbi.nlm.nih.gov/39480826/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:140450

Orphanet

European rare disease database

Orphanet:1342

GARD

Genetic and Rare Diseases Info Center

GARD:2614

Questions for Your Care Team

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heart-hand syndrome type 3

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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