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brachydactyly-long thumb syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-long thumb syndrome

MONDO:0007212

Also known as:brachydactyly, long thumb typebrachydactyly long thumb typelong-thumb brachydactyly syndrome

Overview

Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.

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 brachydactyly-long thumb syndrome.

201 publications have been identified in PubMed for brachydactyly-long thumb syndrome. Kisho has analyzed 35 by research type. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	14	40%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112430

Orphanet

European rare disease database

Orphanet:2946

GARD

Genetic and Rare Diseases Info Center

GARD:968

Questions for Your Care Team

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brachydactyly-long thumb syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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