Orphanet: Oculo auriculo vertebral spectrum

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Oculo-auriculo-vertebral spectrum

Disease definition

A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.


Classification level: Disorder
  • Synonym(s):
    • OAV spectrum
    • Oculoauriculovertebral spectrum
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12074
  • MedDRA: -

Detailed information


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