Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
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 April 2024
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Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies?
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Advocacy Organizations
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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