Goldenhar Syndrome

Goldenhar Syndrome

What is Goldenhar Syndrome?

Goldenhar Syndrome is a rare birth defect characterized by abnormal prenatal development of the head and face. Common features include missing ears and malformations include missing ears and malformation of the jaw, eye, vertebrae, mouth and palate.

Goldenhar Syndrome is also a disorder with many names. Some doctors differentiate between types with minor details. The following is a list of other names used for Goldenhar Syndrome:

Facio-Auriculo-Vertebral Spectrum (FAV)

Hemfacial Microsomia (HFM)

Oculo Auriculo Vertebral Spectrum

First and Second Branchial Arch Syndrome

Characteristics:

The physical characteristics of Goldenhar syndrome include:

Unilateral or Bilateral underdevelopment of the jaw

Unilateral or Bilateral microtia

Unilateral or Bilateral reduction in size and flattening of the upper jaw

Narrowing of the opening of the eye

Epiblbar Dermoids which can cause problems with vision

Cleft palate and/or cleft lip

How can you help a child with Goldenhar Syndrome?

Individuals with Goldenhar syndrome generally require the expertise of both a craniofacial surgeon and an orthodontist with experience with these problems. Currently FACES has information on thirty-two craniofacial teams located in 20 states, the District of Columbia, and Canada. Please contact FACES for details.

Medical Terminology / Causes / Treatment / Resources

Created by: Tori Squires, CDI 684: Cranio-Facial Anomalies
Murray State University, December 2000