Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Definition:

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.

References:

[1]. Anja Sterner-Kock, et al. Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer. Genes Dev. 2002 Sep 1;16(17):2264-73. [Content Brief]

[2]. Zsolt Urban, et al. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009 Nov;85(5):593-605. [Content Brief]

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