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Goldenhar Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 456 Accesses

In 1952, Goldenhar described a pair of monozygotic twins discordant for hemifacial microsomia, mandibular hypoplasia, auricular malformations, and epibulbar dermoids. Gorlin et al. later in 1963 coined the term “oculoauriculovertebral dysplasia” to describe patients with mandibular hypoplasia, microtia, epibulbar dermoids, and vertebral anomalies. The presence of vertebral anomalies and epibulbar dermoids delineates the so-called Goldenhar syndrome. Oculoauriculovertebral spectrum (OAVS) is a relatively common disorder affecting approximately 1 in 5,600 live births.

Synonyms and Related Disorders

Hemifacial microsomia; Oculoauriculovertebral spectrum

Genetics/Basic Defects

  1. 1.

    The term, “Oculoauriculovertebral dysplasia spectrum,” suggested to represent an etiologically diverse spectrum of congenital anomalies

    1. a.

      Oculoauriculovertebral dysplasia

    2. b.

      Facioauriculovertebral syndrome (Goldenhar-Gorlin syndrome)

    3. c.

      Hemifacial microsomia (second most common facial anomaly, second only to...

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Goldenhar Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_109

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