Several inherited connective tissue disorders are linked to mutations in the human FBN1 gene, which encodes fibrillin-1: for example, Marfan syndrome (Lee et al. 1991), stiff skin syndrome (Loeys et al. 2010), acromicric and geleophysic dysplasias (Le Goff et al. 2011) and Weill-Marchesani syndrome (Faivre et al. 2003). Here, FBN1 is linked to geleophysic dysplasia.