Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

What is Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome?

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised 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 <i>HOXA11</i> gene (7p15).

Other condition names

  • ATRUS syndrome

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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