Hereditary thrombocytosis with transverse limb defect

MONDO:0018000

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, thrombocythemia with distal limb defects

5 clinical trials for this condition and its sub-types, 0 tagged with Hereditary thrombocytosis with transverse limb defect itself.

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