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Radio-ulnar synostosis - amegakaryocytic thrombocytopenia

Orpha number ORPHA71289
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD 10 code
  • D69.8
MIM number
Synonym(s) ATRUS syndrome

Summary

This 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 HOXA11 gene (7p15). *Author: Orphanet (September 2007)*.

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