National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Wildervanck syndrome


Other Names:
Cervico-oculo-acoustic syndrome; COA Syndrome; Cervico-oculo-acoustic dysplasia; Cervico-oculo-acoustic syndrome; COA Syndrome; Cervico-oculo-acoustic dysplasia; Cervicooculoacoustic syndrome See More
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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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abducens palsy 0011349
Congenital sensorineural hearing impairment 0008527
Fused cervical vertebrae
Fused neck
0002949
Short neck
Decreased length of neck
0000470
5%-29% of people have these symptoms
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Facial palsy
Bell's palsy
0010628
Lens subluxation
Partially dislocated lens
0001132
Low posterior hairline
Low hairline at back of neck
0002162
Meningocele 0002435
Pseudopapilledema 0000538
Webbed neck
Neck webbing
0000465
Percent of people who have these symptoms is not available through HPO
Abnormality of the outer ear
Abnormality of the external ear
Ear anomalies
External ear malformations
Outer ear abnormality
[ more ] 		0000356
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Preauricular skin tag 0000384
Sporadic
No previous family history
0003745
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Last updated: 7/1/2020
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][3] Environmental factors may also be involved, indicating that this condition may be due to many factors (multifactorial).[2] 
Last updated: 10/13/2016
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, some researchers suggest that this condition may be transmitted as an X-linked dominant trait. The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.[2][3]
Last updated: 10/13/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.