The features include conjunctival dermoid cysts, auricular appendices with pretragal blind fistula. The skull may be asymmetrical with micrognathia, with other skeletal abnormalities being accessory ribs and abnormal vertebrae. Hearing defect of various degrees from near normal to severe hearing loss (conductive type); vision defect, including diplopia of various degrees. Feeding difficulty; moderate mental retardation in only 10 % of cases. A wide variety of other disorders may also occur. Aetiology unknown. Autosomal recessive or dominant inheritance is possible. Sporadic cases occur. Male-female ratio 2:1. Occurrence is estimated from 1 in every 3,000 to 1 in every 5,000 live births.
When the vertebral defects and eye anomalies are present the condition is designated as the Goldenhar syndrome, when one side of a child's face is smaller or underdeveloped in comparison with the other side, it is known as hemifacial microsomia.
It has been suggested that the characteristic asymmetrical malformations of the face, the eye, and the ear were first recorded by the nineteenth-century German physician Carl Ferdinand von Arlt (1812-1887).
See also Weyers-Thier syndrome, under Helmut Weyers, German paediatrician and paedontologist, 1920-1986.
- C. F. von Arlt:
Klinische Darstellung der Krankheiten des Auges zunächst der Binde-, Horn- und Lederhaut, dann der Iris und des Ciliarkörpers. Wien, Braumüller, 1881.
- M. Goldenhar:
Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale.
Journal de génétique humaine, Genève, 1952, 1: 243-282.
- R. J. Gorlin, et al:
Journal of Pediatrics, St. Louis, 1963, 63: 991-999.