CRLF1 and Crisponi syndrome: While mutations in CRLF1 is associated with cold sweat syndrome and Crisponi syndrome, the craniofacial malformations of these patients suggest that CRLF1 may be important for the formation of the ECM (Knappskog et al., 2003; Dagoneau et al., 2007; Okur et al., 2008; Mcgregor et al., 2010; Yamazaki et al., 2010).