label: hereditary thrombocytosis with transverse limb defect
label_lc: hereditary thrombocytosis with transverse limb defect
description: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly."