In humans, null mutations in the LTBP4 gene cause autosomal recessive cutis laxa type 1C (ARCL1C; initially called Urban-Rifkin-Davis syndrome), which is a rare congenital connective tissue disorder characterized by severe craniofacial anomalies, lax skin and severe abnormalities in several visceral organs including the lung. This evidence concerns the gene LTBP4 and cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.