FBN1 and Marfan syndrome: Mutations in FBN1 result in Marfan syndrome (MFS) (Robinson et al., 2006) but domain‐specific FBN1 mutations have been found in other connective tissue disorders including Weill‐Marchesani syndrome (Faivre et al., 2003), stiff skin syndrome (Loeys et al., 2010), isolated ectopia lentis (Lonnqvist et al., 1994), and acromicric dysplasia (Le Goff et al., 2011), in addition to GPHYSD.