Oculo-Auriculo-Vertebral Spectrum (OAVS)

Also known as: craniofacial microsomia, Hemifacial Microsomia, Goldenhar syndrome, facio-auriculo-vertebral spectrum, and oculo-auriculo-vertebral dysplasia.

What is OAVS?

If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia. It’s a birth defect that can have implications beyond just the physical abnormalities.

This condition goes by many names including hemifacial microsomia, craniofacial 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-auriculovertebral spectrum” (OAVS).

What are the symptoms of OAVS?

Common clinical characteristics of OAVS are:

  • Underdeveloped upper jaw (maxilla) and lower jaw (mandible),
  • Underdeveloped facial muscles and surrounding bones
  • Underdevelopment of the outer ear (microtia), ear tags, and 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, vertebral anomalies and kidney abnormalities.

deformities in the ears and eye caused by OAVS

What causes OAVS?

The exact cause of OAVS is unknown. Research suggests that it caused b y disruption of the first and second brachial arches at about 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 of which is a disruption in blood supply to the brachial arches during early fetal development.

OAVS usually occurs sporadically in a f amily, meaning that ther e are no other aff ected 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 percent. Women who are diabetic have a higher risk for having a child with this condition therefore it is important that women with diabetes have pre-conceptual counseling.

What is the prognosis for my child with OAVS?

With close medical attention, the prognosis for most children with this condition is positive. Through monitoring and management of hearing and various anomalies, as well as, follow-up by a craniofacial team, these children will attend school, have friends, and most of all enjoy life.

Reviewed by: Saoussen Salhi, MD

This page was last updated on: November 17, 2020 07:48 AM

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