Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum or OAV is a rare congenital condition, with yet unknown cause, affecting roughly one in every 3,000-5,000 live births and primarily causing defects of the eyes, ears and spine. While other affected organ systems include heart, kidneys, lungs and nervous system, from a craniofacial perspective, the most common clinical finding is hemifacial microsomia, with tissues on one side of the face being underdeveloped, namely in the area affecting the ear, mouth and lower jaw. Other important craniofacial findings include cleft lip and/or palate, wider than normal mouth, partially formed or completely absent ear (microtia), dermoid cysts of the eyes, hearing loss or complete deafness and respiratory issues.
Diagnosis of Goldenhar syndrome involves thorough medical history and physical examination, advanced imaging and genetic testing. Treatment for children with Goldenhar syndrome is based on each patient’s unique constellation of clinical findings. From a craniofacial perspective, your surgeon will focus on repair of oral/facial clefts, lower jaw and teeth deformities and ear abnormalities. Long term follow up for children with Goldenhar syndrome is necessary.