What Is Goldenhar Syndrome?
Goldenhar syndrome affects the ear, face, and spine. Here is what families should know.
Goldenhar Syndrome (also called oculo-auriculo-vertebral spectrum) is a congenital condition that primarily affects the eyes, ears, and spine. It is related to hemifacial microsomia but includes additional features.
Key features:
- Facial features:
- Microtia (underdeveloped ear)
- Hemifacial microsomia (one side of the face is smaller)
- Underdeveloped cheekbone and jaw on the affected side
- Cleft lip or palate (in some cases)
- Eye features:
- Small or absent eye (microphthalmia/anophthalmia)
- Dermoid cysts on the eye (small white bumps)
- Coloboma of the upper eyelid (notch)
- Spine features:
- Abnormal vertebrae (fused or malformed)
- Scoliosis (curved spine)
- Other possible features:
- Hearing loss
- Heart defects
- Kidney anomalies
- Normal intelligence (most cases)
- What causes it:
- The exact cause is unknown
- Most cases are random, not inherited
- No known preventible cause
Treatment
- Treatment requires a multidisciplinary approach:
- Ear reconstruction (ages 6β10)
- Hearing aids (BAHA or conventional)
- Jaw surgery (mandibular distraction or orthognathic surgery)
- Orthodontic treatment
- Eye surgery (for dermoid cysts or eyelid coloboma)
- Spine monitoring (for scoliosis)
Long-Term Outlook
Most children with Goldenhar syndrome have normal intelligence and lead full, active lives. The appearance differences can be significant, but multiple reconstructive surgeries can improve function and appearance.
Clinical Guidance
Goldenhar syndrome affects the ears, eyes, face, and spine. It is related to hemifacial microsomia and requires multidisciplinary care including ear reconstruction, hearing aids, and jaw surgery. Most children have normal intelligence and excellent long-term outcomes.