Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

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Synonyms: ARCL1C | Autosomal recessive cutis laxa type 1C | Urban-Rifkin-Davis syndrome

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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies?

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Clinical Trials

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