Other Names for this Disease
- Goldenhar syndrome
- Facioauriculovertebral sequence
- FAv sequence
- Expanded spectrum of hemifacial microsomia
- Facioauriculovertebral dysplasia
Tests & Diagnosis
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.
Last updated: 5/1/2016
- 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/.
- Oculo-Auriculo-Vertebral Spectrum. NORD. 2007; http://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.
- Orphanet lists international laboratories offering diagnostic testing for this condition.