This disorder was named for Maurice Goldenhar, an American physician who emigrated from Belgium.
The constellation of anomalies is considered to constitute a spectrum of disease and it may well be that more than one condition is involved. At any rate, there is a wide range of anomalies and degree of severity. One of the outstanding and apparent signs is asymmetry of the face with one side being smaller than the other. The involved side may also have an abnormally small or misshapen external ear, the canal may be small or nonexistent, and there is often a small tag in front of the ear with or without a small hole associated. There may be a split in the eyelid on the same side and often there is a small benign growth on the white part of the eye. Facial, ocular, and auricular features may be unilateral or bilateral. Vertebrae are often malformed. Some degree of deafness is common. Congenital heart defects, cleft lip and/or palate and a misshapen jaw have also been described. A small number of patients have some mental deficit and autism can be a feature.
The inheritance of Goldenhar spectrum is uncertain. Most cases occur sporadically, that is, without a family history. However, families with autosomal recessive and autosomal dominant patterns have been reported with the latter being most common. Because the signs may be subtle and minor in many people, it is likely that affected relatives are often missed. No gene mutation has been identified.
The diagnosis requires a multidisciplinary team of pediatricians, otolaryngologists, audiologists, and orthopedists. The lack of specific diagnostic criteria makes definitive diagnosis difficult in many individuals. The prognosis is excellent in mildly affected cases but those with more severe features may require medical monitoring and cosmetic surgery. Scoliosis is a risk that should be monitored as well. Assistive hearing devices may be of benefit.