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Genetic and Rare Diseases Information Center (GARD)

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Wildervanck syndrome


Other Names for this Disease

  • Cervico-oculo-acoustic dysplasia
  • Cervico-oculo-acoustic syndrome
  • Cervicooculoacoustic syndrome
  • COA Syndrome
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Overview

What is Wildervanck syndrome?

What causes Wildervanck syndrome?

How is Wildervanck syndrome inherited?

What is Wildervanck syndrome?

Wildervanck syndrome is a condition that occurs almost exclusively in females and 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 that is present from birth), and hearing loss. [1]  The cause of Wildervanck syndrome is unknown.  In most cases, affected individuals have no family history of the condition. [2]
Last updated: 11/3/2010

What causes Wildervanck syndrome?

The exact cause of Wildervanck syndrome is not known.  It is suspected to be a polygenic condition, meaning that many genetic factors may be involved. [2] 
Last updated: 11/3/2010

How is Wildervanck syndrome inherited?

Wildervanck syndrome does not have a clear pattern of inheritance.  In most cases, only one person in a family is affected.  These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome.  Because this syndrome occurs mostly in females, it is possible that this condition has X-linked dominant inheritance.  The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth. [2]
Last updated: 11/2/2010

References
  1. Gorlin, R; Cohen Jr., M; Hennekam, R. Syndromes of the Head and Neck. Oxford: Oxford University Press; 2001;
  2. Wettke-Schafer and Kantner, G. X-linked Dominant Inherited Diseases With Lethality in Hemizygous Males. Human Genetics. 1983; 64:1-23.


Other Names for this Disease
  • Cervico-oculo-acoustic dysplasia
  • Cervico-oculo-acoustic syndrome
  • Cervicooculoacoustic syndrome
  • COA 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.