Goldenhar syndrome is a craniofacial syndrome, which means that it causes certain abnormalities in the formation of the face and head. It is considered a rare disease and a congenital one, meaning it’s present at birth. Goldenhar is present in just 1 out of every 3,500 to 25,000 babies at birth. Another name for Goldenhar is oculoauriculovertebral dysplasia.
In people with Goldenhar syndrome, abnormalities appear mostly in the areas of the ears, eyes, and spine. This condition can also affect the structure of the face, and some internal organs. The severity of the abnormalities and symptoms varies by individual.
The symptoms of Goldenhar and their severity are extremely variable from one individual to another. The most recognizable symptom is the presence of facial abnormalities, in particular hemifacial microsomia. These occur when the bones and muscles in the face are underdeveloped on just one side of the face. Those with Goldenhar may also have a cleft lip or cleft palate.
Other characteristics of the syndrome include defects in the eyes, ears, and spine. This can mean growths on the eyes, small eyes, missing eyelids, small ears, missing ears, ear tags, or even hearing loss. In the spine, Goldenhar can cause incomplete development of vertebrae, or fused or missing vertebrae. Many people with the syndrome end up with scoliosis, or a curved spine, as a result.
There are other less common, and less visible, symptoms as well. Between 5 and 15 percent of people with Goldenhar have some degree of intellectual disability. Some also have abnormalities in internal organs, which most commonly include congenital heart defects. Defects affecting the kidneys and limbs are rare.
Goldenhar syndrome is a congenital disease, meaning that it is present in infants when they are born. The cause is an abnormality in a chromosome. It is usually not inherited.
In about 1 or 2 percent of cases, though, the condition is inherited as a genetic disorder. In these cases, it is either autosomal dominant or recessive. This term means that the gene or genes causing it are found on a chromosome that is not related to sex. The genes can either be dominant or recessive, but dominant is more common. No one has yet pinpointed the specific genes that are responsible.
There is no one genetic or chromosomal test to identify Goldenhar syndrome. A doctor or specialist makes a diagnosis by examining an infant or child and identifying the symptoms of the syndrome. When it is diagnosed, the child usually needs to have further tests, such as hearing and vision tests. A doctor may also take an X-ray of the spine to check for problems with vertebrae. To look for heart or kidney problems, a doctor may order ultrasound imaging tests of those organs.
Treatment for Goldenhar syndrome varies greatly depending on the needs of the individual. In some mild cases, no treatment is needed. Children may need to work with a hearing specialist or speech therapist for hearing issues, or may need a hearing aid. If there are vision problems, corrective surgery or glasses may be needed. Surgery may also be needed to correct heart or spinal defects. Children with an intellectual disability may need to work with education specialists.
The outlook for children with Goldenhar syndrome varies, but it’s generally very positive. Most children can expect to live a healthy life once treatments have been administered. The majority can expect to have a normal lifespan and a normal level of intelligence.