The Goldenhar syndrome, a different face

People born with Goldenhar syndrome are recognizable by their abnormal appearance. There is usually an asymmetrical face, in which ears, eyes and jaws in particular may deviate. Goldenhar syndrome is an extremely rare condition that occurs during pregnancy. Little is known about its cause.

What is Goldenhar?

Goldenhar syndrome is a developmental disorder of the head and spine and occurs in approximately 3,500 to 6,000 newborns, mainly boys. Although the cause is not known, it is suspected that the condition is caused by an interruption of the blood supply or bleeding into the tissue that normally makes up the ear canals and jaws. This disruption usually occurs around the 30th to 45th day of pregnancy. It is not known how this disturbance occurs, but it could be due to an excess of vitamin A at the beginning of pregnancy. As far as is known, the condition is not hereditary, but it cannot be ruled out that certain genes play a role. However, these are speculations that have not yet been sufficiently investigated.

Characteristics

The severity of the condition varies from person to person. The characteristics may include:

  • Underdevelopment of the vertebrae
  • A sideways curvature of the back
  • An asymmetrical face
  • Smaller jaws than average
  • Dental abnormalities (teeth usually develop later than normal and some teeth are even missing)
  • A larger mouth, sometimes with a cleft palate and upper lip (cleft palate, also called cleft lip)
  • Conditions or deformities of one or both ears and/or eyes (sometimes also blindness and deafness) or even the absence of one or both auricles/eyes.
  • Nose disorders
  • Some patients also have a (mild) intellectual disability

The abnormal facial features are generally limited to one side of the face, although there are also cases where both halves of the face are affected.

Oculo-auriculo-vertebral dysplasia

Goldenhar syndrome is also known as oculo-auriculo-vertebral dysplasia, where oculo refers to the eye, auriculo stands for the ear and vertebral refers to the vertebrae. The Belgian-American ophthalmologist Maurice Goldenhar, who first described the condition in 1952, is responsible for the more popular name of the condition.
The condition can be classified as hemifacial microsomia, which literally means underdevelopment of one half of the face. However, Goldenhar syndrome also involves the vertebrae.

Diagnosis and treatment

The diagnosis can only be made on the basis of the characteristics listed above. Cure is not possible, but it is possible to adjust the appearance or improve certain functionalities through (plastic) surgery. This often requires many operations. Good guidance is needed to learn to deal with the limitations associated with this disease.

Information and contact with fellow sufferers

Because this condition occurs so rarely, little information is available. For the same reason, not much research is done. Fellow sufferers and those directly involved in the Netherlands can find each other via Facebook, where the Goldenhar & sufferers page was created. This group regularly organizes Goldenhar peer days, among other things. There is also the goldenharlotgenoot hyves page.

Laposa association

The need for mutual contact is great. Patients and stakeholders can therefore join the Laposa association (National Patient and Parent Association for Skull and/or Facial Abnormalities). There is a lot of knowledge and experience here about facial abnormalities. They can provide assistance in embarking on the often difficult medical process and refer for psychosocial assistance. In addition to providing help and information to patients and stakeholders, the association also provides information to care providers such as general practitioners, midwives, clinics and teachers.

Own Face Foundation

The Own Face Foundation is committed to helping people with a deviating face. These people are often stared at and sometimes even bullied. Sometimes this causes people to become isolated. Eigen Face tries to create more understanding for people with facial abnormalities through information and media expressions. Patients who are in danger of becoming socially isolated can learn to work on self-confidence and resilience through training.