TGFB1 and Loeys-Dietz syndrome: Other clefting syndromes for which the genetic basis has been identified include Loeys-Dietz syndrome (OMIM # 609191), a condition caused by imbalanced TGFβ signaling and caused by mutations in either subunit of the TGFβ receptor, TGFBR1/2 [38]. Shprintzen-Goldberg syndrome (OMIM # 182212) is caused by mutations in SKI, a suppressor of TGFβ signaling [58].