Orphanet: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
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Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Disease definition

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).

ORPHA:221145

Classification level: Disorder
  • Synonym(s):
    • ARCL1C
    • Autosomal recessive cutis laxa type 1C
    • Urban-Rifkin-Davis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q82.8
  • OMIM: 613177
  • UMLS: C2750804
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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