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 characterized by abnormalities of the ears, eyes and vertebrae.

Epidemiology

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

Associations

In addition to the main features described below, there may be associated features such as:

• abnormal amniotic fluid volumes ²

  • oligohydramnios

  • polyhydramnios: more common, due to swallowing issues

• congenital genitourinary anomalies ¹⁰

• congenital cardiac anomalies ²

Clinical presentation

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

• ear anomalies: commonest feature ⁴

  • preauricular 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.

Radiographic features

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.

Treatment and prognosis

The overall prognosis is generally favorable 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.

History and etymology

The first case of oculo-auriculo-vertebral dysplasia was reported by von Arlt in 1854 ^12,13. The syndrome is named for Belgian ophthalmologist Maurice Goldenhar (1924-2001) who described the condition in 1952 ^11-13.