Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome, Craniofacial Microsomia)

Oculo-auriculo-vertebral spectrum (OAVS) includes an assortment of congenital malformations that affect various parts of the head and upper body. They most often include ear and eye abnormalities, brain and spinal deformities, and heart defects. The term “microsomia” refers to part of the body developing smaller than normal size. Also common are differences in the sizes and shapes of the features on each side of the face and head.

OAVS (which is also known by several other names incuding Goldenhar Syndrome and Craniofacial Microsomia) occurs once in about 3,500 births and results in low or lost functioning in hearing, seeing, eating, speaking, and sometimes also results in mental retardation and autism. The effects can range from mild to severe and it is believed to be caused by both genetic and environmental factors.

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