Autosomal recessive cutis laxa subtype C (ARCL1C) or Urban–Rifkin–Davis syndrome, caused by biallelic variants in the LTBP4 gene, is characterized by early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, inguinal hernias, and hollow-organ diverticula. This evidence concerns the gene LTBP4 and cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.