Goldenhar syndrome is a rare congenital condition and potential cause of deafblindness which can hinder the development of the ear, nose, lip and mandible. It can also cause development problems in the first and second branchial arch which gives rise to structures in the jaw and the eyes. The syndrome can also cause several other problems including abnormal tongue shape, a lack of saliva, small or abnormally shaped ears, speech problems and under formed spinal vertebrae. In most cases problems only occur one side of the body (unilaterally) however in around 10% of cases it can occur on both sides (bilaterally).


Although the exact causes of Goldenhar Syndrome aren’t currently known, it’s thought that there are a number of contributing factors. Research indicates that there is a development issue which occurs late within the first trimester. And some studies indicate that exposure to toxins, such as dioxin, before or during pregnancy can contribute to the chances of developing the syndrome. One study has linked Gulf War syndrome with the condition, suggesting that the incidence of Goldenhar syndrome is higher in the children of Gulf War veterans.


Most treatments for the syndrome are limited to correcting developmental problems with surgery, where possible. For instance bone grafts, repairing a cleft palate, repairing hearing malformations and spinal surgery. Hearing aides can also be of use due to the hearing problems associated with the condition. The vast majority of those with Goldenhar syndrome will require increasing amounts of assistance as the syndrome progresses such as glasses, a wheelchair or cane and aid from a carer to function on a day to day basis. In around 10% of cases moderate learning disabilities may also occur. It’s possible to diagnose the condition pre-natally by scanning to check for certain facial or skeletal anomalies.


Goldenhar syndrome is more likely to occur in men with around 70% of those affected being male. The level of hearing and vision loss varies from case to case and ranges from nearly normal to severe. In the majority of cases, Goldenhar Syndrome appears seemingly for no reason at all, with no family history of any similar condition. Similarly, in families which have one child with the condition there is little chance of successive children being born with the syndrome. However some studies indicate that autosomal recessive inheritance (where the allele of a gene will only be expressed if two copies of it exist) could be a factor in the development of the condition. Studies have revealed that problems occur between the 8th to 12th weeks of pregnancy, in this period the tissues that will become the face and jaw (which begin separately from the upper parts of the face) begin to grow. In those who have Goldenhar Syndrome, something goes wrong at this stage and the tissue may not seal correctly, leaving the upper jaw and mouth longer on one side. Similarly, there is sometimes extra skin where tissue has been sealed near the ear.