Goldenhar Syndrome

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS) or facioauriculovertebral dysplasia, is a rare congenital defect primarily characterised by incomplete development of the ear, nose, soft palate, lip, and mandible, usually on one side of the body. It affects between 1 in 3,500 to 1 in 5,600 live births and has a male-to-female ratio of 3:2. The condition involves anomalies in the first and second branchial arches.

Female with Goldenhar syndrome, showing preauricular skin tags

Signs and Symptoms

The chief markers of Goldenhar syndrome include incomplete development of the ear, nose, soft palate, lip, and mandible, usually on one side of the body. Patients may also experience issues with internal organs, particularly the heart, kidneys, and lungs, where the organ may be underdeveloped or absent on one side. While it typically affects one side, defects can occur bilaterally in about 10% of cases.

Other symptoms may include severe scoliosis (twisting of the vertebrae), limbal dermoids, hearing loss, and possibly deafness or blindness in one or both ears/eyes. Granulosa cell tumours may also be associated with this condition.

Severe Goldenhar syndrome in a 10-year-old girl

Limbal dermoid as seen in Goldenhar syndrome

This condition can be inherited in an autosomal dominant manner

Causes

The cause of Goldenhar syndrome remains largely unknown but is thought to be multifactorial. There may be a genetic component, as certain familial patterns have been observed. It has been suggested that the syndrome stems from a developmental issue in the branchial arch late in the first trimester. An increase in cases among the children of Gulf War veterans has been suggested but found to be statistically insignificant.

Diagnosis

There is no general consensus on the minimal diagnostic criteria for Goldenhar syndrome due to its highly variable presentation. Diagnosis is often based on the presence of hemifacial microsomia and other abnormalities derived from the first and second branchial arches. These may include:

• Ocular abnormalities: epibulbar dermoids, microphthalmia, anophthalmia, eye asymmetry or dysmorphy.
• Otorhinolaryngological abnormalities: microtia, anotia, partial to complete atresia of the external acoustic meatus, preauricular appendages, deafness, and microsomia.
• Skeletal abnormalities: mandibular deformities, torticollis, scoliosis, kyphosis.
• Other organ abnormalities: cardiac defects (most frequently atrial septal defect and ventricular septal defects), and renal defects such as agenesis or multicystic kidneys.
• Other features: small stature, delayed psychomotor development, intellectual disability (seen with cerebral developmental anomalies and microphthalmia), speech disorders, and autistic behaviours.

Treatment

Treatment for Goldenhar syndrome is usually focused on surgical interventions to assist in the child's development. This may include jaw distraction and bone grafts, debulking ocular dermoids, repairing cleft palate or lip, and surgery for heart or spinal malformations. Some patients may require hearing aids or glasses to aid their sensory development. Stem cell grafting has been successfully used in some cases to "reprogram" eye dermoids, effectively halting their regrowth.

Epidemiology

The prevalence of Goldenhar syndrome ranges from 1 in 3,500 to 8,500 births.

Eponym

The condition was first documented in 1952 by Belgian-American ophthalmologist Maurice Goldenhar (1924–2001).

Self-assessment MCQs (single best answer)

What is another name for Goldenhar Syndrome?

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Which gender is more frequently affected by Goldenhar Syndrome?

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Goldenhar Syndrome primarily involves anomalies in which branchial arches?

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What is the chief marker of Goldenhar Syndrome?

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In what percentage of cases can Goldenhar Syndrome defects occur bilaterally?

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Which organ is NOT commonly affected by Goldenhar Syndrome?

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What is the suggested but statistically insignificant association mentioned in relation to Goldenhar Syndrome?

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What is the main approach to treatment for Goldenhar Syndrome?

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Which ocular abnormality is commonly associated with Goldenhar Syndrome?

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Who first documented Goldenhar Syndrome?

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