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Diseases

Genetic and Rare Diseases Information Center (GARD)

Goldenhar disease


Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
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Tests & Diagnosis

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How is Goldenhar disease diagnosed?

A diagnosis of Goldenhar disease is based on the presence of characteristic signs and symptoms. These clinical features may be observed on physical examination or may require specialized testing such as imaging studies (i.e. CT scan, X-ray, echocardiogram, ultrasound). Additional testing including certain genetic tests may also be recommended to rule out conditions that are associated with similar features.[1][2]
Last updated: 5/1/2016

References
  1. Carrie L Heike, MD, MS, Daniela V Luquetti, MD, PhD, and Anne V Hing, MD. Craniofacial Microsomia Overview. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK5199/.
  2. Oculo-Auriculo-Vertebral Spectrum. NORD. 2007; http://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.