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 vertebra.

Epidemiology

The estimated incidence is at  1 in 3-5000 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.

Clinical spectrum

The condition is characterised by a number of features which include

• ear anomalies: commonest feature ⁴
  • pre-auricular appendages/tags
  • otic hypoplasia
• hemifacial microsomia
• ocular anomalies
  • unilateral microphthalmia/unilateral anophthalmia
  • epibulbar dermoids
• transverse facial clefts
• asymmetry of skull and spinal anomalies ¹ (vertebral segmentation errors)

Pathology

Genetics

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

Associations

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

• abnormal amniotic fluid volumes (AFV) ²
  • oligohydramnios
  • polyhydramnios: may be commoner due to swallowing issues
• congenital genito-urinary anomalies ¹⁰
• congenital cardiac anomalies ²

Radiographic features

Antenatal ultrasound

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.

Prognosis

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

Etymology

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