Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

J Med Genet. 2022 May;59(5):417-427. doi: 10.1136/jmedgenet-2021-108219. Epub 2022 Feb 2.


Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

Keywords: disorders of environmental origin; genetic heterogeneity; genetics; human genetics.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Branchial Region
  • DNA Copy Number Variations
  • Goldenhar Syndrome* / diagnosis
  • Goldenhar Syndrome* / genetics
  • Humans