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Disease Profile

Van der Woude 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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Neonatal

ICD-10

Q38.0

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.

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)

VDWS; VWS; Lip pit syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary

Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.[1][2] Growth and intelligence are usually normal.[2] This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion.[1][2]

Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.[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
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Lower lip pit
0000196
5%-29% of people have these symptoms
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286
Cleft upper lip
Harelip
0000204
Hypodontia
Failure of development of between one and six teeth
0000668
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bifid uvula
0000193

Diagnosis

Van der Woude syndrome should be considered in every child born with a cleft lip and/or palate. A clinical evaluation by a medical geneticist is generally performed to document all relevant clinical findings. In addition, the parents should be examined for isolated lip pits, cleft palate, and hypodontia (missing teeth). To make a clinical diagnosis of Van der Woude syndrome, at least one of the following findings must be present:[2]

  • Lip pits and cleft lip AND/OR palate (CLP). Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.

  • Lip pits alone and a first-degree relative with CLP

  • CLP and a first-degree relative with lip pits

Genetic testing for mutations in the IRF6 gene can also be used to diagnose this condition.[2] Genetic Testing Registry lists the names of laboratories that are performing genetic testing for Van der Woude syndrome. Please note: Most of the laboratories listed through this resource do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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

      • Genetics Home Reference (GHR) contains information on Van der Woude syndrome. This website is maintained by the National Library of Medicine.
      • 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

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 Van der Woude syndrome. Click on the link to view a sample search on this topic.

          References

          1. Van der Woude syndrome. Genetics Home Reference. April 2008; https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome.
          2. Schutte BC, Saal HM, Goudy S, Leslie E. IRF6-Related Disorders. GeneReviews. July 3, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1407/.

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