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radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

MONDO:0011555

Also known as:ATRUS syndromeRUSATradioulnar synostosis with amegakaryocytic thrombocytopenia

Overview

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).

OnsetCONGENITAL, ANTENATAL

ResearchLimited published research (2 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 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome.

2 publications have been identified in PubMed for radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Schecter DR (2026). [PMID: 41635268](https://pubmed.ncbi.nlm.nih.gov/41635268/). *Am J Med Genet A*. [Case Report / Case Series]
Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:71289

GARD

Genetic and Rare Diseases Info Center

GARD:16687

Questions for Your Care Team

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radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team