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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Goldenhar disease be treated?

The treatment of Goldenhar disease is based on the signs and symptoms present in each person. Ideally, affected children should be managed by an experienced multidisciplinary craniofacial team. Treatment is age dependent and certain interventions may be recommended at different stages of growth and development.[1][2][3]

The following are examples of medical issues that may need to be addressed in a person affected by Goldenhar disease:[1][3]
  • Feeding issues - some people affected by Goldenhar syndrome may have feeding difficulties caused by the associated craniofacial abnormalities. Interventions may include special bottles, supplemental nasogastric feedings, and gastrostomy tube placement.
  • Breathing problems - affected people with an underdeveloped lower jaw may have difficulty breathing or develop sleep apnea. In these cases, referral to appropriate medical specialists is recommended so appropriate care can be provided.
  • Hearing loss - a hearing evaluation is recommended in all children with Goldenhar disease by 6 months of age. In those with hearing impairment, hearing aids or other treatments may be recommended.
  • Epibulbar tumors (noncancerous growths in the eyes) - these tumors may need to be surgically removed if they are particularly large or interfere with vision.
  • Craniofacial abnormalities (i.e. cleft lip and/or palate), congenital heart defects, kidney problems, and/or spine abnormalities - some of the characteristic symptoms associated with Goldenhar disease may require surgical repair.
  • Speech - people affected by Goldenhar disease are at an increased risk for a variety of speech problems due to the many associated craniofacial abnormalities. A speech evaluation and/or speech therapy may, therefore, be recommended in some affected people.
Last updated: 5/2/2016

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/.
  3. Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; http://www.faces-cranio.org/pdf/GOLDENHAR.pdf.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Clinical Trials & Research for this Disease

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with 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.