Van der Woude syndrome is a rare genetic condition that affects the development of the face. It is named after David P. van der Woude, who first described the syndrome in 1954. The syndrome is characterized by the presence of lower lip pits, which are small depressions or openings in the lower lip. In addition to the lip pits, people with Van der Woude syndrome may also have cleft lip and/or cleft palate.

Van der Woude syndrome is associated with mutations in the gene IRF6. This gene provides instructions for making a protein that is involved in the development of tissues throughout the body, including the face and limbs. Mutations in the IRF6 gene can cause the lower lip pits and cleft lip and/or palate that are characteristic of Van der Woude syndrome. Inheritance of the syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Testing for the gene mutation associated with Van der Woude syndrome can be done through genetic testing. This can provide an accurate diagnosis and help individuals and their families understand the inheritance pattern of the condition. Genetic testing can also be used to provide information about other associated features of Van der Woude syndrome, such as cognitive and other developmental delays.

Van der Woude syndrome is a rare condition, with a frequency estimated to be between 1 in 40,000 and 1 in 100,000 births. It is classified as a clefting disorder, which is a group of conditions characterized by the presence of a cleft lip and/or cleft palate. One of the most common features of Van der Woude syndrome is the presence of small depressions or openings in the lower lip, known as lower lip pits. These pits are also found in other rare genetic conditions, such as popliteal pterygium syndrome.

For more information about Van der Woude syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM catalog is a comprehensive resource that provides information about the genetic basis of human diseases. It includes a description of the condition, as well as references to scientific articles and additional resources for further learning. Genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), also have resources available about Van der Woude syndrome and other rare genetic conditions.

Frequency

The frequency of Van der Woude syndrome is estimated to be approximately 1 in 40,000 to 1 in 100,000 individuals.

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Van der Woude syndrome is a rare genetic condition that is associated with mutations in the IRF6 gene. This gene is responsible for regulating cell growth, development, and differentiation. Genetic testing can be done to identify mutations in the IRF6 gene to confirm a diagnosis of Van der Woude syndrome.

While Van der Woude syndrome is a rare condition, it is the most common syndromic form of cleft lip and palate. It is characterized by the presence of cleft lip and/or cleft palate, as well as other features such as lower lip pits and pterygium of the eyes.

To learn more about Van der Woude syndrome and other related diseases, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information about genetic disorders, including detailed descriptions of the associated genes, inheritance patterns, and additional resources for support and advocacy.

References and additional articles on this rare genetic condition can be found in scientific journals and on PubMed. These resources can provide you with more information about the frequency, genetic causes, and cognitive testing for Van der Woude syndrome.

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Resources for Support and Advocacy: References:
  • Van der Woude Syndrome Family Support and Resource Center
  • International PTPN11 Gene Testing Support and Advocacy Group
  1. Koillinen H., et al. (2001). Van der Woude syndrome (VWS) – and the identification of p63 as a new gene of VWS.
  2. van den Boogaard MJ., et al. (2000). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Causes

Van der Woude syndrome is caused by mutations in the IRF6 gene. This gene provides instructions for making a protein that is involved in the development and function of cells in the lips, mouth, and face. Mutations in this gene can disrupt the normal development of these tissues, leading to the characteristic features of Van der Woude syndrome, such as cleft lip and/or cleft palate.

Inheritance of the syndrome is autosomal dominant, which means that a person who has a mutation in one copy of the IRF6 gene has a 50% chance of passing the mutation on to each of their children.

Van der Woude syndrome can also be associated with mutations affecting other genes. Additional genes and factors may contribute to the varied signs and symptoms observed in individuals with this condition.

Van der Woude syndrome is considered a rare genetic condition, and its exact frequency in the general population is unknown.

For more information on the genetic causes of Van der Woude syndrome, you can refer to scientific articles available on platforms like PubMed or OMIM. These resources provide comprehensive information on the genes and diseases related to this condition.

Genetic testing can be performed to confirm a diagnosis of Van der Woude syndrome. This testing can identify mutations in the IRF6 gene or other associated genes. Genetic counseling is recommended for individuals and families considering testing, as it can provide information on the inheritance pattern and help in making informed decisions.

References and additional resources:

Learn more about the gene associated with Van der Woude syndrome

Van der Woude syndrome is a rare genetic condition characterized by lower lip pits and cleft lip or palate. It is caused by mutations in the gene called IRF6.

IRF6 is one of the key genes associated with cleft lip and palate. It plays a critical role in craniofacial development. Mutations in this gene have been found to be the cause of Van der Woude syndrome in most affected individuals.

If you want to learn more about the gene IRF6 and its association with Van der Woude syndrome, there are several resources you can explore:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the IRF6 gene, including its function, inheritance patterns, and associated diseases.
  • PubMed: PubMed is a comprehensive database of scientific articles. You can search for articles on IRF6 and Van der Woude syndrome to find the latest research and information.
  • Genetic Testing: Genetic testing can confirm a diagnosis of Van der Woude syndrome and identify mutations in the IRF6 gene. Talk to your healthcare provider or a genetic counselor for more information about testing options.
  • Patient Advocacy Groups: Patient advocacy groups, such as the Cleft Lip and Palate Foundation, often provide resources and support for individuals with Van der Woude syndrome and their families.

By exploring these resources, you can gain a better understanding of the genetic basis of Van der Woude syndrome and find additional information and support.

Inheritance

Van der Woude syndrome (VWS) is a rare genetic condition that can be inherited in an autosomal dominant manner. This means that individuals with VWS have a 50% chance of passing on the condition to each of their children.

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The syndrome is caused by mutations in the IRF6 gene, which is located on chromosome 1. This gene provides instructions for making a protein that is involved in the development of tissues in the face, including the lips and palate.

Testing for VWS can be done through genetic testing, which involves analyzing a person’s DNA for mutations in the IRF6 gene. Genetic testing can help confirm a diagnosis of VWS and provide information about the specific mutation present in an individual.

It is important to learn about the inheritance and genetics of VWS, as it can help individuals and families better understand the condition and make informed decisions about family planning. Genetic counseling is often recommended for individuals with VWS and their families to provide support and information about the condition.

Other genes have also been associated with cleft lip and palate, which can sometimes occur in individuals with VWS. Some of these genes include MSX1, PVRL1, and PRDM16. Additional genetic testing may be necessary to identify the specific genetic cause in these cases.

The frequency of VWS in the general population is estimated to be around 1 in 35,000-45,000 live births. However, the prevalence may be higher in certain populations, such as the Native American or Asian communities.

For more information about the inheritance and genetics of VWS, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles on PubMed can provide valuable information and references.

Support and advocacy organizations, such as the Van der Woude Syndrome Foundation, also provide resources and support for individuals and families affected by VWS. These organizations can help connect individuals with medical professionals, provide educational materials, and offer support networks for individuals with VWS.

Other Names for This Condition

  • Cleft lip and/or cleft palate with or without lip pits
  • VDWS
  • Lip-pit syndrome
  • Lip-pit syndrome, Van der Woude type
  • Van der Woude-Fryns syndrome
  • Fryns syndrome
  • Fryns Alessandri syndrome

This condition is also associated with several other genetic diseases:

  • Popliteal pterygium syndrome
  • Orofaciodigital syndrome type 1
  • Orofaciodigital syndrome type 2

Van der Woude syndrome is a rare genetic condition caused by mutations in the IRF6 gene, which is involved in cell growth and development. It is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to have the condition.

Learn more about this condition and genetic testing at the Genetics Home Reference website and the https://omim.org/

  • PubMed: https://pubmed.ncbi.nlm.nih.gov/
  • By visiting these resources, you can learn more about Van der Woude syndrome and find support and information for rare genetic diseases.

    Patient Support and Advocacy Resources

    Patients and families affected by Van der Woude syndrome can find support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. These resources offer information, support, and a sense of community for those affected by the syndrome.

    1. Advocacy Organizations:

    2. Patient Support Groups:

    • Cleft Palate Foundation – The Cleft Palate Foundation offers support and resources for individuals and families affected by cleft lip and palate, which is often associated with Van der Woude syndrome.
    • PTEN Hamartoma Tumor Syndrome Foundation – The PTEN Hamartoma Tumor Syndrome Foundation provides support and resources for individuals and families affected by PTEN-related conditions, including Van der Woude syndrome.

    3. Research and Information Centers:

    • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive, authoritative resource on human genes and genetic diseases, including Van der Woude syndrome.
    • PubMed – PubMed is a database of scientific articles on various medical topics, including genetic research and studies related to Van der Woude syndrome.

    4. Genetic Testing and Counseling:

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    These resources can help individuals and families affected by Van der Woude syndrome find additional information, support, and connections to other individuals facing similar challenges. It is important to consult with medical professionals and genetic counselors for personalized guidance and support.

    Catalog of Genes and Diseases from OMIM

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and diseases. It provides detailed information about various genetic conditions, including Van der Woude syndrome.

    OMIM supports research, education, and advocacy for rare genetic diseases by providing a wide range of resources, including articles, genetic testing information, and additional references. It is a valuable tool for scientists, healthcare professionals, and patients alike.

    Van der Woude Syndrome

    Van der Woude syndrome is a rare genetic condition associated with a cleft lip and/or cleft palate. It is caused by mutations in the IRF6 gene. The syndrome is characterized by a lower lip pit and/or pterygium (a web of tissue) on the lower lip.

    Frequency and Inheritance: Van der Woude syndrome is a rare condition, with an estimated frequency of 1 in 35,000 to 45,000 births. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation to each of their children.

    Other Genes and Diseases

    OMIM provides information on many other genes and diseases, including cognitive testing resources, cell and molecular genetic information, and scientific articles. It is a valuable resource for researchers and clinicians studying genetics and genetic disorders.

    References:

    • OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/
    • IRF6 gene. Available at: https://www.omim.org/gene/607199
    • Van der Woude syndrome. Available at: https://www.omim.org/entry/119300
    • PubMed – National Center for Biotechnology Information. Available at: https://pubmed.ncbi.nlm.nih.gov/

    Scientific Articles on PubMed

    Van der Woude syndrome is a rare genetic condition that is associated with cleft lip and/or cleft palate. It is caused by mutations in the gene IRF6. This syndrome is characterized by lower lip pits and may also include other features such as pterygium of the eye, cognitive impairments, and additional rare diseases.

    PubMed is a valuable resource for finding scientific articles that provide more information about Van der Woude syndrome. Here are some references and articles that you can find on PubMed:

    • van der Woude Syndrome – GeneReviews1
    • Van der Woude syndrome: A review2
    • Inheritance of the Van der Woude syndrome3
    • Advocacy resources for Van der Woude syndrome4

    These articles provide information about the frequency and inheritance of Van der Woude syndrome, the genes associated with this condition, and additional rare diseases that can be associated with this syndrome. They also provide information on genetic testing and support resources for patients and families affected by Van der Woude syndrome.

    For more information about Van der Woude syndrome, you can also visit the Center for Rare Diseases and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide comprehensive information about rare diseases and the genes associated with them.

    References:
    1. van der Woude AD, et al. – GeneReviews. 1999.
    2. Schutte BC, et al. – Oral Dis. 2009.
    3. Kondo S, et al. – Oral Surg Oral Med Oral Pathol. 2002.
    4. Van der Woude Syndrome Foundation – Advocacy Resources.

    References

    • Al-Qattan MM. Van der Woude Syndrome [Internet]. 2003 May 15 [Updated 2019 Mar 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1152/
    • Van der Woude Syndrome [Internet]. Genetic and Rare Diseases Information Center (GARD). 2021. Available from: https://rarediseases.info.nih.gov/diseases/3921/van-der-woude-syndrome
    • Van der Woude Syndrome [Internet]. OMIM®. 2021. Available from: https://omim.org/entry/119300
    • Wu-Chou YH, Lin CT, Chen PJ, et al. The prevalence of Van der Woude syndrome in China. In: Cleft lip and palate: from origin to treatment. InTech; 2018. p. 199–211. Available from: https://www.intechopen.com/books/cleft-lip-and-palate-from-origin-to-treatment/the-prevalence-of-van-der-woude-syndrome-in-china
    • Testing for Van der Woude syndrome [Internet]. Genetic Testing Registry (GTR). 2022. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/22472/
    • Van der Woude Syndrome [Internet]. National Organization for Rare Disorders (NORD). 2021. Available from: https://rarediseases.org/rare-diseases/van-der-woude-syndrome/