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Autosomal recessive cutis laxa type 2

Disease definition

Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term).

ORPHA:90350

  • Synonym(s):
    • ARCL2
    • Cutis laxa with joint laxity and developmental delay
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: -
  • UMLS: C0432337
  • MeSH: -
  • GARD: -
  • MedDRA: -

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