Skip to Accessibility Menu
Skip to Login
Skip to Content
Skip to Footer
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
What is Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies?
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).
Other condition names
Autosomal recessive cutis laxa type 1C
Worldwide: <1 in 1,000 000
Age of Onset
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
. Data version 1.3.16 / 4.1.7.