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heart-hand syndrome type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heart-hand syndrome type 2

MONDO:0015284

Also known as:Tabatznik syndromeatriodigital dysplasia type 2heart-hand syndrome 2

Overview

Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).

ResearchLimited published research (6 articles)

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 2.

6 publications have been identified in PubMed for heart-hand syndrome type 2. Research spans Basic Science / Preclinical (67%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).

Recent Publications

Li L (2025). [PMID: 40126773](https://pubmed.ncbi.nlm.nih.gov/40126773/). *J Appl Genet*. [Basic Science / Preclinical]
Stoll C (2025). [PMID: 39315659](https://pubmed.ncbi.nlm.nih.gov/39315659/). *Am J Med Genet A*. [Epidemiology / Natural History]
Steimle JD (2024). [PMID: 39541167](https://pubmed.ncbi.nlm.nih.gov/39541167/). *J Clin Invest*. [Basic Science / Preclinical]
Stanworth M (2024). [PMID: 39480826](https://pubmed.ncbi.nlm.nih.gov/39480826/). *PLoS One*. [Basic Science / Preclinical]
Tamhankar PM (2024). [PMID: 39421111](https://pubmed.ncbi.nlm.nih.gov/39421111/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1350

GARD

Genetic and Rare Diseases Info Center

GARD:9847

Questions for Your Care Team

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heart-hand syndrome type 2

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team