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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.

Your Question

I have Wildervanck syndrome.  I wonder if I will able to have children, a boy or a girl, or just a girl.  Is it true that it will affect a baby boy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Wildervanck syndrome?

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

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. [3] 
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. [3]
Last updated: 11/2/2010

Can a person with Wildervanck syndrome have children?

It is not known if Wildervanck syndrome affects a person's ability to have a child.  Because the cause of Wildervanck syndrome is also uknown, it is difficult to determine the chance that a child could inherit the condition from an affected parent. [3]  At least one family has affected individuals in five generations. [5]  There is also a report of an affected mother having two sons and a daughter who were not affected. [6] 

To find out your specific risk of having a child with Wildervanck syndrome, we recommend that you consult with a genetics professional.
Last updated: 10/18/2013

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
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.