radioulnar synostosis with amegakaryocytic thrombocytopenia

Pathology

• unusual association of bone marrow failure & skeletal defects

Genetics

• associated with defects in HOXA11

Clinical manifestations

• patients have the same skeletal defects
• proximal fusion of the radius & ulna, resulting in extremely limited pronation & supination of the forearm
• some patients have also symptomatic thrombocytopenia, with bruising & bleeding problems since birth

Management

• bone marrow transplantation or
• umbilical-cord stem-cell transplantation

More specific terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/605432