In addition to cold sweat syndrome (Knappskog et al., 2003) and Crisponi syndrome (Crisponi et al., 2007), mutations in the CRLF1 gene can also cause facial muscle atrophy, scoliosis and craniofacial deformity (Yamazaki et al., 2010). This evidence concerns the gene CRLF1 and Crisponi syndrome.