Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the extracellular matrix and results in increased activity of transforming growth factor-beta.