Clubhand

Thrombocytopenia with absent radius (TAR) syndrome is a rare autosomal recessive condition. The hallmark of the diagnosis is bilateral radial aplasia with thumbs present.

VACTERL association is usually defined by the presence of at least three of the following congenital anomalies involving different organ systems: Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities.

Fanconi anaemia (FA) is characterised by bone marrow failure (that leads to pancytopenia), predisposition to malignancies (haematological and solid tumours) and congenital abnormalities.