Goldenhar syndrome

Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterised by abnormalities of the ears, eyes and vertebrae.

The estimated incidence is at  1 in 3000-5000 newborns. There may be a minor male predominance (M:F ~3:2).

The majority of cases are thought to be sporadic, with occasional cases suggesting an autosomal-recessive or autosomal-dominant inheritance.

The condition is characterised by a number of features which include:

The occurrence is thought to be mostly sporadic. Occasional autosomal dominant and autosomal recessive forms have been described.

In additional to main features described above, there can additional associated features such as

Individual features are non specific. The syndrome is sometimes considered when there is facial asymmetry or a maxillary cleft present in association with unilateral microphthalmia.

The overall prognosis is generally favourable except for cosmetic facial problems and handicap from eye and ear anomalies. Intelligence is usually not affected. There is a ~3% for a future pregnancy 6.

It is named after Maurice Goldenhar who initially described the the condition in 1952 11.

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Article information

rID: 12373
Section: Syndromes
Synonyms or Alternate Spellings:
  • Oculo-auriculo-vertebral spectrum (OAVS)
  • Oculo-auriculo-vertebral syndrome (OAVS)
  • Oculo-auriculo-vertebral syndrome
  • Facio-auriculo-vertebral dysplasia
  • Goldenhar-Gorlin syndrome
  • Goldenhar-Gorlin’s syndrome

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