Radioulnar synostosis with amegakaryocytic thrombocytopenia

Definition:

This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.

References:

[1]. A A Thompson, et al. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000 Dec;26(4):397-8. [Content Brief]

[2]. Tetsuya Niihori, et al. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. Am J Hum Genet. 2015 Dec 3;97(6):848-54. [Content Brief]

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