Thrombocytopenia-Absent Radius Syndrome
What is thrombocytopenia-absent radius syndrome?
Thrombocytopenia-absent radius syndrome is a congenital disorder characterized by severe thrombocytopenia (low platelet count and clot-forming cells) and bilateral absence of the radial bones (bone in the forearm). Sometimes children with this disorder will also have other anomalies including abnormal or absent bones in the arm, and heart defects.
Thrombocytopenia-absent radius syndrome is usually diagnosed within the first week of life during a physical exam of your child, a family medical history and blood tests.