congenital hematological disorder hereditary thrombocytosis with transverse limb defect https://www.malacards.org/card/thrombocythemia_with_distal_limb_defects familial thrombocytosis with transverse limb defect GARD:0021487 Orphanet:329319 UMLS:C4749944 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. MEDGEN:1653707 MONDO:0018000 dysostosis congenital limb malformation inherited blood coagulation disorder