Medical Definition of Goldenhar syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Goldenhar syndrome: Congenital malformation of the jaw, cheek and ear associated with vertebral defects. There is deformity of the external ear and abnormal smallness of that half of the face. Coloboma (cleft) of the upper eyelid is frequent. The ear deformities range from tags in front of the ear, to atresia (closure) of the external auditory canal, abnormalities in the size and shape of the ear, and even anotia (lack of the ear). These features represent problems that occurred in the development of structures known as the first and second branchial archs during embryonic life. Most of the children with the disorder are of normal intelligence. Cosmetic surgery is needed. Other names for the condition include hemifacial microsomia, facio-auriculo-vertebral spectrum, facioauriculovertebral sequence, oculo-auriculo-vertebral spectrum, oculoauriculovertebral dysplasia, and the first and second branchial arch syndrome.

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Reviewed on 10/30/2018

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