Orphanet: Anoftalmie microftalmie oesofageale atresie

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Anophthalmia/microphthalmia-esophageal atresia syndrome

Disease definition

A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.


Classification level: Disorder
  • Synonym(s):
    • MCOPS3
    • Syndromic microphthalmia type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 206900
  • UMLS: C1859773
  • MeSH: -
  • GARD: 1443
  • MedDRA: -

Detailed information


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