Orphanet: Microtia eye coloboma imperforation of the nasolacrimal duct syndrome

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Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

Disease definition

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.


Classification level: Disorder
  • Synonym(s):
    • Balikova-Vermeesch syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q13.8
  • OMIM: 611863
  • UMLS: C2678482
  • MeSH: -
  • GARD: 10300
  • MedDRA: -
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