Mutations in the human EFEMP2 gene lead to ARCL1B, whereas mutations in the human LTBP4 gene are causative for ARCL1C (Callewaert and Urban, 2016; Loeys et al., 2015). The gene discussed is LTBP4; the disease is cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.