In 1952, Maurice Goldenhar published a case collection of congenital mandibulo-facial malformations with or without epibulbar dermoids, auricular appendages and auricular fistulas. With the attempt to systematically classify these malformations, he described for the first time what later became known as the Goldenhar syndrome.
Goldenhar syndrome is a variant of the oculo-auriculo-vertebral spectrum. It consists of haemifacial microsomia (HFM), epibulbar dermoids and vertebral anomalies. Major manifestations of HFM are orbital distortion, mandibular hypoplasia, ear anomalies, nerve involvement and soft tissue deficiency (OMENS classification). In addition, patients with Goldenhar syndrome can present with heart, kidney and lung malformations as well as limb deformities. Depending on the organs affected and the severity of the malformations, the phenotype is highly variable (Table).
The exact cause of Goldenhar syndrome is unknown but considered to be multifactorial, i.e. a combination of gene interactions and environmental factors that causes a maldevelopment of the first and second branchial arches during the first trimester of pregnancy. Males are affected more often than females (3:2). About 10-30% of patients have bilateral, usually asymmetric facial microsomia. There is no agreement on the incidence of Goldenhar syndrome in the literature. Reports vary between 1:3,000 – 5,000 and 1:25,000 – 40,000.