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Autosomal recessive cutis laxa type 1

Disease definition

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

ORPHA:90349

  • Synonym(s):
    • ARCL1
    • Autosomal recessive cutis laxa with severe systemic involvement
    • Autosomal recessive cutis laxa, pulmonary emphysema type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 219100  614437
  • UMLS: C0268351  C0432336
  • MeSH: -
  • GARD: 8480
  • MedDRA: -

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