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hereditary thrombocytosis with transverse limb defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary thrombocytosis with transverse limb defect

MONDO:0018000

Also known as:familial thrombocytosis with transverse limb defectthrombocythemia with distal limb defects

Overview

Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.

ResearchLimited published research (3 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 hereditary thrombocytosis with transverse limb defect.

3 publications have been identified in PubMed for hereditary thrombocytosis with transverse limb defect. Research spans Other (33%), Case Report / Case Series (33%), and Clinical Trial Publication (33%).

Recent Publications

Unknown (2026). [PMID: 41501744](https://pubmed.ncbi.nlm.nih.gov/41501744/). *BMC Proc*. [Other]
Khan S (2025). [PMID: 41042754](https://pubmed.ncbi.nlm.nih.gov/41042754/). *PloS one*. [Clinical Trial Publication]
Zabeida A (2025). [PMID: 40778015](https://pubmed.ncbi.nlm.nih.gov/40778015/). *Research and practice in thrombosis and haemostasis*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:329319

GARD

Genetic and Rare Diseases Info Center

GARD:21487

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hereditary thrombocytosis with transverse limb defect

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team