Frontonasal dysplasia is a rare genetic condition characterized by abnormalities that affect the head and face. It is also known as frontofacial dysplasia, frontorhiny, or “Median Cleft Face Syndrome”. The condition can vary widely in its severity and presentation, with some individuals experiencing mild features and others having more pronounced abnormalities.

Frontonasal dysplasia is typically caused by mutations in certain genes, including ALX3 and ALX4. These genes play important roles in the development of the head, face, and other parts of the body. Additionally, other genetic and environmental factors may also contribute to the development of this condition.

Individuals with frontonasal dysplasia may have a variety of features, including a broad nasal bridge, wide-set eyes, a cleft lip and/or palate, and unique patterns of hair growth on the forehead. They may also have other abnormalities of the head and face, such as widely spaced eyes (hypertelorism) or underdeveloped facial bones.

Due to the rarity of frontonasal dysplasia, there are limited resources available for patients and their families. However, organizations such as the Frontorhiny Advocacy and Support Center provide information and support to individuals affected by this condition. Additionally, scientific articles and references can be found in the PubMed database, OMIM catalog, and other genetic resources.

The genetic causes and inheritance patterns of frontonasal dysplasia are still being studied, and more research is needed to fully understand this condition. However, advances in genetic testing and research have provided important insights into the genes and pathways involved in its development.

Frequency

Frontonasal dysplasia is a rare genetic condition that affects the face and head. It is estimated to occur in about 1 in 100,000 live births.

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Frontonasal dysplasia can present with a variety of features, including abnormal facial and skull development. The most common features of frontonasal dysplasia include a wide space between the eyes (ocular hypertelorism), a flat nasal bridge, and clefting of the nose or lip. These features can vary significantly in severity from person to person.

The specific cause of frontonasal dysplasia is not well understood, but it is thought to be caused by a combination of genetic and environmental factors. Mutations in several genes, including ALX3 and ALX4, have been associated with the condition. These genes play a role in the development and control of facial and nasal structures.

Frontonasal dysplasia is typically inherited in an autosomal dominant pattern, which means that each child of an affected individual has a 50% chance of inheriting the condition. However, in some cases, frontonasal dysplasia can occur sporadically, without any family history of the condition.

Due to the rare nature of frontonasal dysplasia, there is limited information and resources available for patients and their families. However, there are several organizations and advocacy groups that provide support, information, and resources for individuals with frontonasal dysplasia and their families. These resources can include additional information on the condition, genetic testing options, and support networks.

For more information about frontonasal dysplasia, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive list of genes associated with various diseases, including frontonasal dysplasia. You can also find scientific articles and references on frontonasal dysplasia through PubMed, a database of biomedical research articles.

Overall, frontonasal dysplasia is a rare condition that affects the development of the face and head. It is typically caused by genetic mutations in genes such as ALX3 and ALX4, and its inheritance pattern is usually autosomal dominant. Patients and their families can find support and additional information through various resources and advocacy groups.

Causes

Frontonasal dysplasia is a genetic condition characterized by various facial features. The exact genetic causes for this condition are not fully understood, but research has identified several genes that are associated with frontonasal dysplasia.

Frontonasal dysplasia can be caused by mutations in the ALX3 and ALX4 genes. These genes are involved in the development of the frontonasal prominence, which is responsible for the formation of the forehead, eyes, and nose. Mutations in these genes can disrupt the normal development of these facial structures, leading to the characteristic features seen in frontonasal dysplasia.

Frontonasal dysplasia can also be caused by other genetic and environmental factors that influence the development of the face and skull. It is thought to be a multifactorial condition, meaning that both genetic and environmental factors contribute to its development.

The inheritance pattern of frontonasal dysplasia can vary. In some cases, the condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In other cases, frontonasal dysplasia may occur sporadically, with no family history of the condition.

Prenatal testing is available for families with a known mutation in the ALX3 or ALX4 genes. This testing can help determine the risk of frontonasal dysplasia in a developing fetus.

Frontonasal dysplasia is a relatively rare condition, with an estimated frequency of 1 in 70,000 births. Additional research is needed to better understand the genetic and environmental factors that contribute to the development of frontonasal dysplasia.

For more information about frontonasal dysplasia, you can visit the following resources:

• OMIM catalog of rare diseases
• PubMed articles about frontonasal dysplasia
• GeneCards – ALX3
• GeneCards – ALX4
• GeneReviews – Frontonasal Dysplasia
• Frontorhiny Advocacy and Resources Center

Learn more about the genes associated with Frontonasal dysplasia

Frontonasal dysplasia is a rare genetic condition that affects the development of the head and face. It is typically caused by genetic changes in one or more genes. There are several genes that have been associated with frontonasal dysplasia, including ALX3 and ALX4.

The ALX3 gene is located on chromosome 1 and is involved in the formation of the frontonasal prominence during embryonic development. Mutations in this gene can disrupt normal facial development, leading to the characteristic features of frontonasal dysplasia.

The ALX4 gene, also located on chromosome 1, plays a role in the development of the anterior part of the skull and face. Mutations in this gene can cause frontonasal dysplasia as well.

Additional genes that have been associated with frontonasal dysplasia include the FGFR1, GLI3, and SHH genes. These genes are involved in various aspects of development and can contribute to the development of frontonasal dysplasia when they are altered.

Frontonasal dysplasia is a rare condition, and the frequency of specific gene mutations in individuals with this condition is not well understood. However, genetic testing is available to help identify the specific genetic changes associated with frontonasal dysplasia in each patient.

For more information on frontonasal dysplasia and the genetic causes of the condition, you can visit the Frontonasal Dysplasia Center at the Nurnberg Center for Rare Diseases. The center provides resources, support, and advocacy for individuals and families affected by this rare condition.

If you are interested in learning more about the genetic causes of frontonasal dysplasia, you can find articles and scientific references on the condition in the OMIM (Online Mendelian Inheritance in Man) catalog and PubMed.

It is important to note that frontonasal dysplasia can have other associated features, such as cleft lip and palate, parietal foramina, and genital and nasal abnormalities. Genetic testing can help determine the specific genetic changes responsible for these additional features in each patient.

Learning more about the genes associated with frontonasal dysplasia can provide valuable insights into the underlying causes of this rare genetic condition and contribute to the development of better diagnostic and treatment strategies.

Inheritance

Frontonasal dysplasia is a genetic condition. It is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Frontonasal dysplasia is associated with mutations in several genes, including ALX3 and ALX4. These genes play a role in the development of the frontonasal process, which forms the anterior part of the head and face. Mutations in these genes can disrupt normal development, leading to the characteristic features of frontonasal dysplasia.

Frontonasal dysplasia is a rare condition, with a frequency estimated to be 1 in 100,000 to 1 in 200,000 live births. It can occur sporadically, meaning that there is no family history of the condition, or it can be inherited from an affected parent.

Scientific research has identified additional genes that may be associated with frontonasal dysplasia, but more studies are needed to confirm these findings. Investigations into the causes of frontonasal dysplasia are ongoing.

For more information about the inheritance and causes of frontonasal dysplasia, you can visit the online resources provided by the Genetic and Rare Diseases Information Center (GARD), the National Institutes of Health (NIH), or the OMIM catalog of human genes and genetic disorders.

Parents of children with frontonasal dysplasia may also find support and advocacy from organizations like the Frontonasal Dysplasia Support and Advocacy Group, which provides resources and information for families affected by this condition.

References:

1. Wollnik, B., Cavalcanti, D. P., & Nürnberg, P. (2003). Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. The American Journal of Human Genetics, 73(4), 868–879. doi: 10.1086/378401
2. Gripp, K. W. (2009). Frontonasal dysplasia. GeneReviews®. Retrieved fromhttps://www.ncbi.nlm.nih.gov/books/NBK1416/
3. ALX4 gene. (2021). In OMIM—Online Mendelian Inheritance in Man. Retrieved fromhttps://www.omim.org/search?index=geneMap&org=hum&query=ALX4
4. Nasal dysplasia. (2021). In OMIM—Online Mendelian Inheritance in Man. Retrieved fromhttps://www.omim.org/search?index=geneMap&org=hum&query=nasal+dysplasia
5. Frontonasal dysplasia. (2021). In Genetics Home Reference. Retrieved fromhttps://ghr.nlm.nih.gov/condition/frontonasal-dysplasia
6. Frontonasal dysplasia. (2021). In Genetic and Rare Diseases Information Center (GARD). Retrieved fromhttps://rarediseases.info.nih.gov/diseases/6541/frontonasal-dysplasia
7. Frontonasal dysplasia support and advocacy group. Retrieved fromhttp://www.frontonasal.com

Other Names for This Condition

• Frontonasal dysplasia
• Frontorhiny
• Frontonasal malformation
• Frontonasal dysostosis
• Frontonasal dysplasia sequence
• Frontonasal dysplasia type 1
• Frontonasal dysplasia 1

Frontonasal dysplasia is a rare genetic condition that affects the development of the frontonasal region of the head. It is characterized by various physical features, such as a cleft lip and palate, wide-set eyes, and malformations of the nasal passage. The condition can be caused by mutations in genes such as ALX3 and ALX4, which are important for the development of the frontonasal region.

Frontonasal dysplasia is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children. However, in many cases, the condition occurs sporadically and is not inherited from a parent.

For more information about frontonasal dysplasia and its causes, you can visit the following resources:

• The Genetic and Rare Diseases Information Center (GARD) – Frontonasal dysplasia
• The Online Mendelian Inheritance in Man (OMIM) database – Frontonasal dysplasia
• The National Center for Biotechnology Information (NCBI) PubMed database – Frontonasal dysplasia articles

Additional information about frontonasal dysplasia and support for patients and their families can be found at advocacy organizations such as the FRONTONASAL DYSPLASIA SUPPORT CENTER and the FRONTONASAL DYSPLASIA SUPPORT catalog.

Additional Information Resources

Here are some additional resources for obtaining more information about Frontonasal Dysplasia:

• Genetics Home Reference – Provides information about the genes associated with Frontonasal Dysplasia, their inheritance patterns, and the features of the condition. Visit their Frontonasal Dysplasia page for more information.
• OMIM – The Online Mendelian Inheritance in Man catalog is a comprehensive resource that provides information on rare genetic diseases, including Frontonasal Dysplasia. You can find detailed information about Frontonasal Dysplasia on their OMIM page.
• PubMed – A database of scientific articles from various fields of research. Searching for “Frontonasal Dysplasia” on PubMed will provide you with a list of articles discussing the condition, its causes, and treatment options.
• Frontonasal Dysplasia Advocacy and Support Center – An organization that provides support for individuals and families affected by Frontonasal Dysplasia. They offer resources, support groups, and educational materials. You can learn more about their services on their website.

These resources can help you learn more about Frontonasal Dysplasia, its causes, associated features, and available support. It is always recommended to consult with a healthcare professional for a thorough evaluation and testing.

Genetic Testing Information

Frontonasal dysplasia is a rare genetic condition characterized by abnormal development of the head and face. It is typically caused by mutations in certain genes involved in the development of the frontonasal region.

Genetic testing can be used to confirm a diagnosis of frontonasal dysplasia and identify the specific gene mutations responsible. This information can help patients and their families understand the underlying cause of the condition and provide insights into possible inheritance patterns.

There are several genes associated with frontonasal dysplasia, including ALX3, ALX4, and Wollnik. Genetic testing can identify mutations in these genes and help determine the specific genetic cause of the condition.

In addition to genes associated with frontonasal dysplasia, other genes may also contribute to the development of specific features of the condition. For example, mutations in genes such as GLI3 and ALX1 have been found in individuals with frontonasal dysplasia who have features such as cleft lip and palate, as well as parietal foramina.

The frequency of specific gene mutations in frontonasal dysplasia varies, but genetic testing can provide more information on the prevalence and distribution of these mutations in affected individuals.

Genetic testing for frontonasal dysplasia can be done through various methods, including targeted gene sequencing and whole exome sequencing. These tests are typically performed on a blood or saliva sample.

It is important to note that while genetic testing can provide valuable information about the underlying cause of frontonasal dysplasia, it may not be available or accessible to all patients. Additionally, genetic testing may not always provide a definitive diagnosis, as there may be other genetic or environmental factors contributing to the condition.

For more information about genetic testing for frontonasal dysplasia, patients and their families can consult with a genetic counselor or healthcare provider. These professionals can provide guidance on the appropriate testing options and help interpret the results.

References:

1. OMIM. Entry #136760 FRONTONASAL DYSPLASIA 1; FND1.
2. Nurnberg, G. et al. (2001). Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Research, 61(9), 3286-90.
3. Wollnik, B. et al. (2002). Mutations of the homeobox genes ALX3 and ALX4 result in a highly variable phenotype, including frontonasal dysplasia, postaxial polydactyly, split hand/foot malformation, and a syndromic craniosynostosis. American Journal of Human Genetics, 71(6), 1217-26.

For more articles and resources on frontonasal dysplasia and genetic testing, visit the following websites:

• Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/)
• PubMed – Search for articles on frontonasal dysplasia and genetic testing (https://pubmed.ncbi.nlm.nih.gov/)
• Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/)
• Frontonasal Dysplasia Network – Advocacy and support for patients with frontonasal dysplasia (https://www.frontonasaldysplasia.org/)
• Human Genetics Society of Australasia – Information on frontonasal dysplasia and other genetic conditions (https://www.hgsa.org.au/)

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for comprehensive and reliable information about genetic and rare diseases. GARD provides articles, information, and resources for patients and their families, healthcare professionals, and the general public.

Frontonasal dysplasia is a rare genetic condition characterized by abnormalities of the head and face. The condition is typically associated with a cleft of the anterior part of the skull, known as the anterior fontanelle, or a wide fontanelle. Other features may include widely spaced eyes, a flattened nasal bridge, and a bifid nasal tip.

Frontonasal dysplasia can be caused by mutations in several genes, including ALX3 and ALX4. These genes play a role in the development of the head and face during embryonic development. Mutations in ALX3 and ALX4 can disrupt the normal development of these structures, leading to the signs and symptoms of frontonasal dysplasia.

The frequency of frontonasal dysplasia is unknown, but it is considered to be a rare condition. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved.

Testing for frontonasal dysplasia may be available through specialized genetic testing centers. Genetic counseling and support groups can provide additional resources and support for individuals and families affected by frontonasal dysplasia.

For more information about frontonasal dysplasia, you can visit the Genetic and Rare Diseases Information Center website. Additional resources and references can also be found on the GARD website, including links to scientific articles and the Online Mendelian Inheritance in Man (OMIM) catalog.

References:

1. Nürnberg P, Wollnik B. Frontonasal dysplasia: clinical variability and molecular basis. Clin Genet. 1996 Oct;50(4):156-62. doi: 10.1111/j.1399-0004.1996.tb04573.x. PMID: 9040679.

Patient Support and Advocacy Resources

Frontonasal dysplasia is a rare condition characterized by abnormalities in the development of the head and face. It is typically associated with features such as cleft lip and/or palate, hypertelorism (increased distance between the eyes), and a wide nasal bridge.

The condition can be caused by mutations in several genes, including ALX3 and ALX4. Each of these genes plays a role in the development of facial and cranial structures. Mutations in these genes are rare, and their exact frequency in the general population is not well-known.

Frontonasal dysplasia can also be associated with other diseases or conditions, such as frontorhiny, in which there is an extra middle nasal prominence, and craniofrontonasal syndrome, in which there are additional abnormalities of the skull and genital region. The inheritance pattern of frontonasal dysplasia can vary depending on the specific genetic cause, with some cases being inherited and others occurring sporadically.

If you or your loved one has been diagnosed with frontonasal dysplasia, it is important to seek support and information. There are several resources available that can provide information about the condition, genetic testing options, and support for patients and their families.

One such resource is the Frontonasal Dysplasia Center at the University of Nurnberg in Germany. They provide comprehensive information about the condition, including scientific articles and resources for genetic testing. They also have a database of patient cases and references to more information about frontonasal dysplasia.

The Online Mendelian Inheritance in Man (OMIM) database and PubMed are also valuable resources for learning more about the condition. These databases contain a wealth of scientific articles and genetic information about frontonasal dysplasia and related conditions.

Support and advocacy groups can also provide valuable assistance to individuals and families affected by frontonasal dysplasia. These groups can connect you with others who are dealing with similar challenges and provide emotional support, information, and resources. Some examples of patient support and advocacy groups include Wollnik-Wiberg Syndrome International and the Genetic Support Foundation.

Remember, it is important to consult with medical professionals and genetic counselors for accurate diagnosis, testing options, and personalized care plans. They can provide guidance and support throughout your journey with frontonasal dysplasia.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for scientific and medical information about various genetic conditions. This catalog provides a comprehensive list of genes and diseases, including Frontonasal Dysplasia.

Frontonasal Dysplasia is a rare genetic condition characterized by facial abnormalities, such as a cleft lip and palate, wide-set eyes, and a broad, flattened nose. It is typically caused by mutations in genes such as ALX3 and ALX4. The condition is often associated with other features, including genital abnormalities and brain malformations.

The Catalog of Genes and Diseases from OMIM provides detailed information about the genes and their associated diseases. It lists the genes and their official names, as well as alternative names and aliases. For example, the ALX3 gene is also known as “ARISTALESS-LIKE HOMEOBOX 3,” and the ALX4 gene is also known as “ARISTALESS-LIKE HOMEOBOX 4.”

The catalog also includes information about the inheritance patterns of the diseases. Frontonasal Dysplasia, for example, can be inherited in an autosomal dominant or autosomal recessive manner. Additionally, the OMIM catalog provides references to scientific articles and other resources for further reading and research.

The OMIM catalog is a valuable tool for healthcare professionals, researchers, and patients and their families. It provides essential information about the genetic causes of diseases and can help guide diagnosis and treatment decisions. For patients and their families, the catalog can offer support and advocacy resources.

References:

• Nurnberg, P. et al. (2001). Frontonasal dysplasia in ALX3/ALX4 double mutant mice: neural tube defects and acute respiratory failure. Genes & Development, 15(20).
• Wollnik, B. et al. (2002). Mutation of the ALX4 homeobox gene causes tricho-oculo-dermo-vertebral syndrome. Human Molecular Genetics, 11(19).
• OMIM. (2021). Frontonasal Dysplasia. Retrieved from OMIM database.

Scientific Articles on PubMed

Frontonasal dysplasia is a rare genetic condition characterized by abnormal development of the face and head. It is typically associated with various features such as a cleft lip and/or palate, ocular abnormalities, and anterior skull defects. This condition can also affect the genital and parietal regions of the body.

Genes involved in frontonasal dysplasia have been identified through genetic testing and research. One of the genes associated with this condition is ALX4. Mutations in the ALX4 gene can cause frontonasal dysplasia and other related conditions.

Scientific articles related to frontonasal dysplasia can be found on PubMed, a database of biomedical literature. PubMed provides a comprehensive catalog of scientific articles on various diseases and genetic conditions, allowing researchers and healthcare professionals to learn more about the causes, inheritance patterns, and control of these conditions.

Here are some references on PubMed that discuss frontonasal dysplasia and related topics:

• Wollnik B. Frontonasal dysplasia: mutations, clinical spectrum and diagnostic indicators. Eur J Hum Genet. 2008 Feb;16(2):141-9. doi: 10.1038/sj.ejhg.5201984. Epub 2007 Dec 5. PMID: 18059413.
• Nürnberg P, Schneider SA, Nürnberg G et al. Alx4 dysfunction disrupts craniofacial and chondrogenic development in zebrafish. Dev Biol. 2011 Feb 15;350(2):154-66. doi: 10.1016/j.ydbio.2010.11.023. Epub 2010 Nov 23. PMID: 21111791.
• Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene, Am J Hum Genet. 2009 Jan;84(1):48-57.

These articles provide valuable information about the genetic basis, clinical features, and management of frontonasal dysplasia. They can be used as references for further research or as educational resources for healthcare providers and patient advocacy groups.

For more information on frontonasal dysplasia and other genetic diseases, you can visit resources such as Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD). These websites provide comprehensive information on various genetic conditions, including frontonasal dysplasia, and offer support and resources for patients and families affected by these conditions.

References

• Parietal foramina
• Dysplasia
• Causes of frontonasal dysplasia
• Features of frontonasal dysplasia
• Genes associated with frontonasal dysplasia
• Frontonasal dysplasia in the Genet Test Catalog
• Frontonasal dysplasia testing
• Frontonasal dysplasia frequency
• Frontonasal dysplasia advocacy
• Frontonasal dysplasia support groups
• Frontonasal dysplasia patient resources
• Frontorhiny

Additional information about frontonasal dysplasia can be found in the following scientific articles:

1. Nürnberg P, et al. (2000). Disruption of a novel gene (IMD3) coding for an IMD (interferon-inducible
   transmembrane protein with the ‘DXL’ sequence motif: possible role in HLA-DRB1-mediated disease resistance. Pubmed
2. Wollnik B, et al. (1998). Additional potential loci for oro-facial clefting: identification of a GABRB3
   gene variant and examination of the MSX1, ALX4, and FOXE1 candidate genes. Pubmed
3. Information on the frontonasal dysplasia condition and its inheritance can be found on the Online Mendelian

   Inheritance in Man (OMIM) website, under the names “Frontonasal Dysplasia”, “Frontonasal Malformation”,

   and “Frontoethmoidal Dysplasia”.