Hereditary thrombocytosis with transverse limb defect
Hereditary thrombocytosis with transverse limb defect
Definition
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.
Also known as familial thrombocytosis with transverse limb defect — per MONDO