Goldenhar syndrome

Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

The term is sometimes used interchangeably with Hemifacial Microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.

It affects between 1/3500 to 1/26000 live births in the UK.

Eponym
The condition was documented in 1952 by Maurice Goldenhar.

Symptoms
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes. Intellect is usually normal. The majority of abnormalities will be amenable to surgical correction or will not need specific treatment. Most affected individuals have a good quality of life.

Causes
The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a brachial arch development issue late in the first trimester.

An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.

Treatment
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery. Hearing aides placed in one or both ears.

Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.