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Goldenhar Syndrome is a congenital condition affecting the development of the eye, ear, and spine. In most cases, the syndrome affects only one side of the body, but both sides of the body can be affected. Individuals with Goldenhar Syndrome have facial asymmetry, underdeveloped or absent ear, benign growths in the eye called epibulbar dermoids or lipodermoids, and benign growths or skin tags on the ear, called preauricular appendages. Abnormalities of the spine can manifest in scoliosis, as well as vertebrae or ribs that are missing, partially formed, or abnormally fused. Problems of the heart, lungs, kidneys, and central nervous system are also common. The root cause of the syndrome is unknown, but it is associated with abnormal development of the first and second branchial arches of the fetus, which develop to form the neck and head.
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Kautz, C. (2018). Goldenhar Syndrome. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102078-1
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_102078-1
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