Goldenhar Syndrome

Description of Goldenhar Syndrome

Goldenhar Syndrome is variant of Hemifacial Microsomia. Goldenhar Syndrome severity can vary and the effects can be unilateral or bilateral. The physical manifestations of Goldenhar Syndrome match those of Hemifacial Microsomia with the addition of epibulbar dermoids which are benign tumors located just inside the opening of the eye or the eyeballs.

Characteristics of Goldenhar Syndrome

The physical characteristics of Goldenhar Syndrome include:

Unilateral or Bilateral underdevelopment of the Mandible
Unilateral or Bilateral Microtia
Unilateral or Bilateral reduction in size and flattening of the Maxilla (upper jaw)
Narrowing of the opening of the eye
Epibulbar Dermoids which can cause problems with vision.

The lack of growth and facial asymmetry of Hemifacial Microsomia are accompanied by epibulbar dermoids.

Causes of Goldenhar Syndrome

The origin of Goldenhar Syndrome is thought to be a vascular accident in the fetus. This accident causes the blood supply to be cut off and production of blood clots in the area of those tissues which will develop into the structures of the ear and lower jaw. The amount of damage caused by the vascular accident is directly related to the period of development in which it occurs as well as the degree of tissue destruction that takes place. Since it is not genetically linked, most cases of Goldenhar Syndrome are sporadic and the risk of an individual with Goldenhar Syndrome to have a child with Goldenhar Syndrome is minimal.

Expectations and Treatment of Goldenhar Syndrome

Due to the delayed growth and development of the effected areas, the effects of Goldenhar Syndrome will be more evident as the child grows. The lack of the development of the upper and lower jaws can cause breathing problems as well as a dental malocclusion which will need to be addressed surgically and orthodontically.

For these types of Goldenhar Syndrome conditions, treatment generally requires the expertise of both a craniofacial surgeon and an orthodontist with experience with these problems. The jaw deformity is addressed as early as 3 years of age if the mandibular retrusion is severe enough to cause airway difficulty. This jaw reconstruction can be achieved by extending the mandible with a rib graft or with the utilization of a distraction device to "stretch" the bone. The best approach to reconstructing the jaw, in these Goldenhar Syndrome patients, is determined by the surgeon and is specific for each patient. If it is needed, ear reconstruction is performed in four stages and usually begin at the age of six years. Throughout life, these patients with these Goldenhar Syndrome conditions must maintain adequate dental occlusion through ongoing orthodontic treatment.

Case Studies

Goldenhar Syndrome
Preoperative frontal view of 17-year-old patient after inadequate orthognathic surgical correction. Postoperative frontal view after distraction osteogenesis and dermal fat graft to left cheek. Preoperative left oblique view shows deformity. Postoperative left oblique view after reconstruction.