radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
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).
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0018795
syndromic constitutional thrombocytopenia
is_a
MONDO:0019054
congenital limb malformation
is_a
ATRUS syndrome
exact
RUSAT
related
radioulnar synostosis with amegakaryocytic thrombocytopenia
related