Rare Nephrology News

Disease Profile

Wildervanck syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cervico-oculo-acoustic syndrome; COA Syndrome; Cervico-oculo-acoustic dysplasia;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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.

Medical Terms Other Names
Learn More:
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
Do you have updated information on this disease? We want to hear from you.

Cause

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]

Organizations

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

    Learn more

    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.

        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; https://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; https://www.omim.org/entry/314600.

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