Mandibular hypoplasia with dental crowding and irregular teeth, scleroderma-like skin changes, Raynaud’s phenomenon, most of which are commonly observed in other segmental progeroid syndromes (Cau et al. 2014; Lessel et al. 2015), have not been previously associated with TOR1AIP1 before (Table 1). This evidence concerns the gene TOR1AIP1 and Abnormality of the skin.