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Wildervanck Syndrome

Abstract

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NORD is very grateful to Brendan Lee, MD, PhD, and Soledad Kleppe, MD, of the Department of Molecular and Human Genetics at Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Wildervanck Syndrome

  • Cervico-Oculo-Acoustic Syndrome
  • COA Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital).

In individuals with KFS, there is abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Duane syndrome is characterized by limitation or absence of certain horizontal eye movements; retraction or "drawing back" of the eyeball into the eye cavity (orbit) upon attempting to look inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus). In some affected individuals, additional physical abnormalities may also be present. In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically).

Wildervanck Syndrome Resources

Organizations:

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