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Cloacal exstrophy

Disease definition

Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.

ORPHA:93929

  • Synonym(s):
    • OEIS complex
    • Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Multigenic/multifactorial 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q64.1
  • OMIM: 258040
  • UMLS: C0345217  C1850321
  • MeSH: -
  • GARD: 4080
  • MedDRA: 10067424

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