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Oculo auriculo vertebral (OAV) spectrum abnormalities are a group of conditions that typically involve the cheekbones, jaws, mouth, ears and eyes. The bones of the spinal column may also be involved. It is important that an infant with craniofacial abnormalities be evaluated early in order to determine the cause and plan a course of treatment. Facial bone abnormalities can affect feeding, breathing, vision and hearing.
In most cases, these abnormalities appear to occur randomly with no apparent cause.
There are several types of oculo auriculo vertebral spectrum abnormalities; each type with different symptoms. Types of oculo auriculo vertebral spectrum include:
- Hemifacial microsomia. In this condition, the lower half of one side of the face does not grow normally. Parents may notice that the ear is misshapen, the chin is off center or one corner of the child’s mouth is higher than the other.
- Goldenhar syndrome. This condition is similar to hemifacial microsomia but may also involve the spine, heart and eyes.
- Treacher Collins syndrome. This rare inherited disorder involves underdevelopment of certain parts of the skull. The condition typically affects the cheekbones, jaws, mouth, ears and/or eyes.
Diagnosis of Oculo Auriculo Vertebral Spectrum
Conditions in the oculo auriculo vertebral spectrum present with varying degrees of severity. In general, these conditions are diagnosed through a physical exam by a team of pediatric craniofacial specialists. Imaging tests may also be conducted in conjunction with this evaluation in order to create an individualized treatment plan. Additionally, genetic testing may be recommended to confirm a diagnosis. Genetic counseling will also be provided during the genetic evaluation.
Treatments
Treatments
Treatment of oculo auriculo vertebral spectrum disorders involves surgery to reconstruct the affected portions of the face and skull. This course of treatment often requires multiple surgical procedures as your child develops, typically including skull, jaw, facial, eye and ear reconstruction. Children often begin treatment as infants and continue evaluation and treatment through their teen years.
A multidisciplinary team of doctors with the Cleft & Craniofacial Anomalies Program at Riley at IU Health treats children with conditions in the oculo auriculo vertebral spectrum. This team includes plastic surgeons, neurosurgeons, oral maxillofacial surgeons, ophthalmologists, orthodontists and other pediatric specialists. The program's multidisciplinary approach means that your child can generally see several specialists in one visit. This reduces the number of times your family must travel to our facility and makes receiving care more efficient.
Key Points To Remember
Key Points To Remember
- Oculo auriculo vertebral spectrum abnormalities are a group of conditions that typically involve the cheekbones, jaws, mouth, ears and eyes.
- There are several types of oculo auriculo vertebral spectrum abnormalities, including hemifacial microsomia, Goldenhar syndrome and Treacher Collins syndrome.
- Treatment of oculo auriculo vertebral spectrum abnormalities may require multiple surgeries over time as a child develops.
Support Services & Resources
Support Services & Resources
Visit these websites for information and support related to oculo auriculo vertebral spectrum abnormalities.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This nonprofit organization addresses the medical, financial, psychosocial, emotional and educational concerns related to craniofacial syndromes, including hemifacial microsomia, Goldenhar syndrome and Treacher Collins syndrome.
The website of this nonprofit organization provides overviews on hemifacial microsomia, Goldenhar syndrome and Treacher Collins syndrome, along with information on other resources.