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Diseases

Genetic and Rare Diseases Information Center (GARD)

Wildervanck syndrome


Other Names for this Disease
  • Cervico-oculo-acoustic syndrome
  • COA Syndrome
  • Cervico-oculo-acoustic dysplasia
  • Cervicooculoacoustic syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss.[1][2] Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown reasons in a family with no prior history (sporadically), though a deletion on the X chromosome was identified in one individual with Wildervanck syndrome. X-linked dominant inheritance has been suggested due to the high prevalence of affected females.[3][4] Treatment is specific to each symptom and may include physical therapy, surgical intervention for skeletal, ocular, auditory, and cardiac abnormalities, and utilization of hearing aids.[2]
Last updated: 5/4/2016

References

  1. Gorlin, R; Cohen Jr., M; Hennekam, R. Syndromes of the Head and Neck. Oxford: Oxford University Press; 2001;
  2. Philippe Campeau. Wildervanck Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/wildervanck-syndrome/.
  3. Wettke-Schafer and Kantner, G. X-linked Dominant Inherited Diseases With Lethality in Hemizygous Males. Human Genetics. 1983; 64:1-23.
  4. Victor A. McKusick. Wildervanck Syndrome. In: Anne M. Stumpf. OMIM. 7/22/2014; http://www.omim.org/entry/314600.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wildervanck syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cervico-oculo-acoustic syndrome
  • COA Syndrome
  • Cervico-oculo-acoustic dysplasia
  • Cervicooculoacoustic syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.