Also known as: Hemifacial Microsomia, Facio-Auriculo-Vertebral Spectrum (OAVS), Goldenhar Syndrome
What is Oculo-Auriculo-Vertebral Spectrum?
This condition goes by many names including Hemifacial Microsomia, Goldenhar Syndrome, Facio-Auriculo-Vertebral Spectrum, and Oculo-Auriculo-Vertebral Dysplasia. The different names arose initially because different people used their own clinical descriptions for what was later found to represent one condition that can include a large spectrum of clinical findings. Some individuals will have many of the findings and others a few. Therefore, the condition is now called “Oculo-Auriculo-Vertebral Spectrum” (OAVS). Common clinical characteristics are underdeveloped upper and lower jaw, underdeveloped facial muscles and surrounding bones, underdevelopment of the outer ear (microtia), ear tags, middle ear anomalies, hearing loss, vertebral anomalies. The facial anomalies typically affect one side of the face but can occasionally affect both sides of the face. Other anomalies can include cleft lip and palate, epibulbar dermoids (dermoid cysts on the eye) and upper eyelid coloboma (notch), congenital heart defects, and kidney abnormalities.
What causes OAVS?
The exact cause of OAVS is unknown. Research suggests that it caused by disruption of the 1st and 2nd brachial arches at ~4 weeks gestation. The brachial arches are fetal structures very important in the formation of the bones, muscles, and nerves of the face. Several reasons for the condition have been considered one which is a disruption in blood supply to the brachial arches during early fetal development.
OAVS usually occurs sporadically in a family meaning that there are no other affected family members. However, it has been reported to be inherited in some families. Therefore, it is important for individuals with this condition to have a genetic evaluation. Based on available information, the risk for OAVS in sisters/brothers or children of a person affected with OAVS is approximately 2%. Women who are diabetic have a higher risk for having child with this condition.
What is the prognosis for my child with OAVS?
With close medical attention, the prognosis for most children with this condition is positive. With care attention to hearing and management of various anomalies, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.