Hemifacial Microsmia and Goldenhar Syndrome

What is Hemifacial Microsmia?

Hemifacial Microsmia is a condition in which the tissue on one side of the face is underdeveloped, affecting the aural (ear) or (mouth) and the mandibular (jaw) areas. Sometimes both sides of the face can be affected and involve the skull, as well as the face. Hemifacial Microsmia is also known as goldenhar syndrome, brachial arch syndrome, facioauriculo-vertebral syndrome, oculo-aruiculo-vertebral spectrum or latereral facial dysplasia.

What if my child has Hemifacial Microsomia?

Children with hemifacial microsomia have additional challenges associated with deficiency of soft tissue including skin, fat and muscle on the involved side as well as deformity in the mandible (jaw bone). Ear reconstruction can easily be carried out on these patients but Dr. Griffiths has to pay special attention to the individual physical examination findings of each patient. He has to work with a lower hairline, a deficiency of soft tissue and an underlying skeletal abnormality. Dr. Griffiths can provide you with his expert opinion on your surgical options after he examines your or your child’s deformity. If you live a great distance or live out of the country you can choose to have a video conference with Dr. Griffiths.

What is Goldenhar's Syndrome?

Children with hemifacial microsomia have additional challenges associated with deficiency of soft tissue including skin, fat and muscle on the involved side as well as deformity in the mandible (jaw bone). Ear reconstruction can easily be carried out on these patients but Dr. Griffiths has to pay special attention to the individual physical examination findings of each patient. He has to work with a lower hairline, a deficiency of soft tissue and an underlying skeletal abnormality. Dr. Griffiths can provide you with his expert opinion on your surgical options after he examines your or your child’s deformity. If you live a great distance or live out of the country you can choose to have a video conference with Dr. Griffiths.

What are the Symptoms of Hemifacial Microsmia?

Hemifacial microsomia and Goldenhar syndrome manifests itself in degrees ranging from nearly unnoticeable to extremely severe. The classic symptoms of Hemifacial microsomia include:

1. underdevelopment of the jaw on one side (micrognathia)
2. underdeveloped cheekbone on the affected side
3. underdeveloped or deformed an outer ear (microtia)
4. a missing or undersized ear canal (congenital aural atresia)
5. underdevelopment of the eye and eye socket
Additional symptoms of Goldenhar syndrome include:
1. anomalies of the spine (most typically cervical vertebrae deformities)
2. a narrowing of one eye
3. a soft white or yellow nodule located in the eye (epibulbar dermoids)
4. notched eyelids

What are the Causes of Hemifacial Microsmia?

Hemifacial microsomia usually occurs sporadically (occurs by chance), but is thought to be inherited in some families.

The rate of occurrence of Hemifacial microsomia and Goldenhar syndrome ranges from 1 in 3,500 to 1 in every 5,600 births. It is believed to be caused primarily by sporadic genetic mutations rather than inherited ones. It has been suggested that some cases of Goldenhar are caused by prenatal exposure to chemicals, certain medications, or too-high doses of vitamin A. The chances of an individual with Goldenhar syndrome or Hemifacial microsomia passing it on to offspring are less than 5 percent.

Useful Readings & Links

Goldenhar Syndrome Support Network
The National Craniofacial Association, “Goldenhar Syndrome.”
Goldenhar Family Support Group (UK)