radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Findings
No curated finding names radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0011555), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Radioulnar synostosisHPOHP:0002974
- Very frequent (80% to 99% of cases)
- Amegakaryocytic thrombocytopeniaHPOHP:0004859
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Occasional (5% to 29% of cases)
- Hip dysplasiaHPOHP:0001385
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Also called
- ATRUS syndrome