In isolated cases, the differential diagnosis will include hand-heartsyndromes type II (Tabatznik) and III (Spanish type), other genetic syndromes withupper limb anomalies (e.g., thrombocytopenia-absent radius syndrome, Fanconianaemia, SALL4-related disorders, ulnar mammary,Kaufmann McKusick, Roberts or Nager syndromes), chromosomal anomalies, associationssuch as VACTERL and rare teratogenic embryopathies (thalidomide, valproate)[2,26]. This evidence concerns the gene SALL4 and Thrombocytopenia.