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Goldenhar syndrome

Disease definition

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

ORPHA:374

  • Synonym(s):
    • Expanded spectrum of hemifacial microsomia
    • Facioauriculovertebral dysplasia
    • OAV dysplasia
    • OAVS
    • Oculoauriculovertebral dysplasia
    • Oculoauriculovertebral syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 164210
  • UMLS: C0265240  C0432130
  • MeSH: D006053
  • GARD: 6540
  • MedDRA: -

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