Disease & disorder
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
MONDO:0011555
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).
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.