Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Orpha code: 71289OMIM code: 616738

Definition

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).

Disease data
Classification

Malformation syndrome

Synonyms
ATRUS syndrome
Zespół ATRUS
ORPHA code
71289
OMIM code
616738
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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