Goldenhar Syndrome

Synonyms

Facio-auriculo-vertebral spectrum; First and second branchial arch syndrome; Oculo-auriculo-vertebral spectrum

Definition

Congenital syndrome of the first and second brachial arches that includes malformations of the eyes, ears, mandible, and cervical spine.

Etiology

Because there has been no agreement on the minimal diagnostic criteria, Goldenhar syndrome may be more appropriately termed oculo-auriculo-vertebral spectrum (OAVS). This nomenclature emphasizes the continuum of ocular, auricular, and vertebral anomalies also referred to as hemifacial microsomia, facio-auriculo-vertebral syndrome, otomandibular dysostosis, Goldenhar syndrome, or first and second branchial arch anomalies.

In most cases, OAVS appears to occur sporadically; however, family histories suggest an autosomal dominant or recessive inheritance in several documented cases. Possible loci have been suggested at 14q22 and 5p15.33-pter. Mutations in the SALL1 gene at 16q12.1 can result in an OAVS phenotype...