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Goldenhar disease
Other Names for this Disease
- Facioauriculovertebral sequence
- FAv sequence
- Goldenhar syndrome
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Overview
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown.[1]
References
- Wang W. et al. Hemifacial Microsomia. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim/164210. Accessed November 3, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Goldenhar disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- The Children's Craniofacial Foundation provides general information on microtia. Click on the link to view this fact sheet.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Goldenhar disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Goldenhar disease. Click on the link to go to OMIM and review these resources.