Lacrimo-auriculo-dento-digital syndrome

Lacrimo-Auriculo-Dento-Digital syndrome, also known as Levy-Hollister syndrome, is a rare genetic condition that affects multiple systems in the body. It is characterized by features such as tear duct abnormalities, hearing loss, cleft lip and/or palate, dental defects, and digital abnormalities.

The causes of Lacrimo-Auriculo-Dento-Digital syndrome are genetic mutations in the FGFR2 and FGFR3 genes, which are involved in normal development and growth. These mutations result in abnormalities in the function and structure of fibroblast growth factor receptors, leading to the characteristic features of the syndrome.

The frequency of Lacrimo-Auriculo-Dento-Digital syndrome is currently unknown, but it is considered to be a rare condition. It is estimated to affect less than 1 in 1 million individuals. The condition can be inherited in an autosomal dominant manner, meaning that a person with the syndrome has a 50% chance of passing it on to their children.

Diagnosis of Lacrimo-Auriculo-Dento-Digital syndrome is usually made based on the individual’s distinctive physical features and family history. Genetic testing can confirm the presence of the FGFR2 or FGFR3 gene mutations. Additional testing may be done to assess the extent of organ involvement and to detect any associated complications.

Treatment for Lacrimo-Auriculo-Dento-Digital syndrome involves addressing the specific features and complications present in each individual. This may include surgical repair of cleft lip/palate, hearing aids or cochlear implants for hearing loss, and dental interventions for dental defects. Early intervention and a multidisciplinary approach involving different specialists are usually recommended.

More information about Lacrimo-Auriculo-Dento-Digital syndrome, including research articles, patient advocacy resources, and support groups, can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed databases. These resources provide up-to-date information on the condition, its genetic basis, associated symptoms, and available treatments.

Frequency

The Lacrimo-auriculo-dento-digital syndrome is a rare genetic condition. It is also known by other names such as “Levy-Hollister syndrome,” “FGFR3-related craniosynostosis,” and “OMIM 135750.” The exact frequency of this syndrome is not well documented, but it is considered to be a rare condition.

There is limited information available about the prevalence or incidence of the Lacrimo-auriculo-dento-digital syndrome. However, it is known that the condition is more common among certain populations, such as those of European and Ashkenazi Jewish descent.

The Lacrimo-auriculo-dento-digital syndrome is associated with mutations in the FGFR2 and FGFR3 genes. These mutations affect the normal development of various structures in the body, including the tear ducts, ears, teeth, and digits. Some of the features of this syndrome include cleft lip and/or palate, ear abnormalities, dental anomalies, and digital abnormalities.

The inheritance pattern of the Lacrimo-auriculo-dento-digital syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children.

Diagnosis of the Lacrimo-auriculo-dento-digital syndrome is usually based on the characteristic features observed in the patient. Genetic testing can also be done to confirm the presence of mutations in the FGFR2 and FGFR3 genes.

Support and advocacy organizations can provide additional information and resources about the Lacrimo-auriculo-dento-digital syndrome. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases (GARD) Information Center are two such organizations that can provide support and information.

Scientific articles and research papers can be found on PubMed, which is a database of biomedical literature. Searching for “Lacrimo-auriculo-dento-digital syndrome” or “Levy-Hollister syndrome” on PubMed may provide more information about the condition.

  • OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/entry/135750

Causes

Lacrimo-Auriculo-Dento-Digital (LADD) syndrome is a rare genetic disorder that affects multiple systems in the body, including the tear ducts, ears, teeth, and fingers. The exact cause of LADD syndrome is not fully understood, but it is believed to be caused by mutations in certain genes.

Research on LADD syndrome is limited, but several genes have been associated with the condition. Mutations in the FGFR2 gene and FGFR3 gene have been found in some individuals with LADD syndrome. These genes provide instructions for making proteins that are involved in the development and maintenance of various tissues in the body.

Inheritance patterns in LADD syndrome can vary. It may be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, LADD syndrome may occur sporadically, meaning that there is no family history of the condition.

Because LADD syndrome is rare, resources and information about the condition are limited. Scientific articles and studies on LADD syndrome can be found in databases such as PubMed and OMIM. Genetic testing can be done to confirm a diagnosis of LADD syndrome, but it may not be available in all healthcare settings.

Advocacy and support groups can provide valuable resources and support for patients and their families affected by LADD syndrome. These organizations often have information on the latest research, treatment options, and ways to connect with others who are affected by rare diseases.

References and Additional Resources

  • Lacrimo-Auriculo-Dento-Digital Syndrome – Genetic and Rare Diseases Information Center (GARD)
  • Lacrimoauriculodentodigital Syndrome – Levy-Hollister Syndrome (OMIM)

Learn more about the genes associated with Lacrimo-auriculo-dento-digital syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare genetic disorder characterized by a variety of physical features including abnormalities in the tear ducts, ears, teeth, and fingers. It is also associated with hearing loss. LADD syndrome is caused by mutations in the FGFR2 and FGFR3 genes.

The FGFR2 gene, also known as fibroblast growth factor receptor 2, is involved in the development and regulation of various tissues in the body. Mutations in this gene can disrupt normal development, leading to the characteristic features of LADD syndrome. The FGFR3 gene, on the other hand, produces a protein that plays a role in bone and cartilage growth. Mutations in FGFR3 can affect the development of certain structures in the ear, causing hearing loss.

To learn more about the genes associated with Lacrimo-auriculo-dento-digital syndrome, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes and inheritance patterns associated with LADD syndrome.
  • PubMed: Search for scientific articles on LADD syndrome to find more information about the genes involved and related research studies.
  • Genetic testing: Genetic testing can be done to identify specific mutations in the FGFR2 and FGFR3 genes. This can help confirm a diagnosis of LADD syndrome and provide information on the specific genetic changes present in a patient.
  • Advocacy and support organizations: There may be advocacy and support organizations that provide additional information and resources for patients and families affected by LADD syndrome. These organizations can offer guidance and support for those dealing with the condition.

By learning more about the genes associated with Lacrimo-auriculo-dento-digital syndrome, we can better understand the causes and features of this rare condition and provide appropriate support for affected individuals.

Inheritance

The inheritance of Lacrimo-auriculo-dento-digital syndrome (LADD syndrome) is believed to be autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. This information is based on scientific research and case reports.

LADD syndrome is associated with mutations in several different genes, including FGFR2 and FGFR3. These genes provide instructions for making proteins that are involved in the normal development and function of various tissues and organs in the body. Mutations in these genes can lead to the features and symptoms seen in LADD syndrome.

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Genetic testing can help confirm a diagnosis of LADD syndrome by identifying specific mutations in the associated genes. While there is no cure for LADD syndrome, genetic testing can provide important information for patients and their families, including recurrence risk and options for reproductive planning.

Additional resources for patients and families affected by LADD syndrome include advocacy organizations, such as the Lacrimo-auriculo-dento-digital syndrome Foundation, which provide support, information, and connections to other affected individuals. Rare Disease organizations and support groups can also offer information and resources for those affected by LADD syndrome.

For more scientific information about the genetics and inheritance of LADD syndrome, you can refer to the publications available on PubMed. These articles provide detailed information about the genes associated with LADD syndrome, the frequency of the condition, and other related topics. References to these articles can be found on the Online Mendelian Inheritance in Man (OMIM) database.

In conclusion, LADD syndrome is a rare condition with a genetic basis. It is caused by mutations in specific genes, such as FGFR2 and FGFR3. Inheritance of LADD syndrome is believed to be autosomal dominant, and genetic testing can provide additional information for patients and families affected by this condition. Various resources and support organizations are available to provide assistance to those affected by LADD syndrome.

Other Names for This Condition

Lacrimo-auriculo-dento-digital syndrome is also known by the following names:

  • Lacrimoauriculodentodigital syndrome
  • Rare cleft lip/palate associated with fgfr2/fgrc3 genes
  • LADD syndrome
  • Lacrimo-auriculo-dental syndrome
  • Lacrimo-auriculo-dental-digital syndrome
  • Lacrimo-auriculo-dento-facial syndrome
  • Lacrimo-auriculo-dento-osseous dysplasia
  • Lacrimo-auriculo-digitodental syndrome
  • Lacrimo-auriculo-costo-vertebral syndrome
  • Lacrimo-auriculo-costo-vertebral spectrum
  • Lacrimo-auriculo-vertebral syndrome
  • Lacrimo-audio-ossi-dental syndrome
  • Lacrimo-auriculo-dento-skeletal syndrome
  • Lacrimo-auriculo-costo-vertebral dysplasia
  • Lacrimo-auriculo-dento-vertebral dysplasia

These alternative names reflect different aspects of the condition and highlight features such as tear duct abnormalities, ear and dental abnormalities, and additional skeletal abnormalities. The condition is rare and has been associated with mutations in the FGFR2 and FGFR3 genes.

For more information about the lacrimo-auriculo-dento-digital syndrome, its causes, inheritance, and associated features, you can visit the following resources:

  • The OMIM catalog of genetic diseases (OMIM)
  • Scientific articles with information about this condition (PubMed)
  • Support and advocacy resources for patients with rare diseases (Patient advocacy organizations)
  • Genetic testing centers and services that can provide testing for genes associated with this syndrome (Genetic testing centers)

Additional Information Resources

For more information about Lacrimo-auriculo-dento-digital syndrome, you can explore the following resources:

  • The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on the genetic causes, clinical features, and inheritance patterns of rare diseases. You can find more information about Lacrimo-auriculo-dento-digital syndrome on the OMIM website: https://omim.org/entry/149730.

  • The Genetic and Rare Diseases Information Center (GARD) is a resource center funded by the National Institutes of Health that provides comprehensive information about rare diseases. You can learn more about Lacrimo-auriculo-dento-digital syndrome on the GARD website: https://rarediseases.info.nih.gov/diseases/2215/lacrimo-auriculo-dento-digital-syndrome.

  • PubMed is a database that contains scientific articles on various medical topics. You can find more research papers on Lacrimo-auriculo-dento-digital syndrome by searching for the condition’s name on the PubMed website: https://pubmed.ncbi.nlm.nih.gov/.

  • The Levy-Hollister syndrome catalog is a collection of information on genetic conditions, including Lacrimo-auriculo-dento-digital syndrome. You can access the catalog to learn more about the syndrome’s features and associated genes: http://www.nyee.edu/research/levy-hollister.

  • Genetic testing can provide more information about specific genes and their involvement in Lacrimo-auriculo-dento-digital syndrome. You can consult with a genetics specialist or genetic testing center to learn more about available testing options.

In addition to these resources, there are also advocacy organizations and support groups that provide information, support, and resources for individuals and families affected by Lacrimo-auriculo-dento-digital syndrome. You can search for these organizations online to find more information and connect with others facing similar challenges.

Genetic Testing Information

If you or someone you know may have Lacrimo-auriculo-dento-digital syndrome, genetic testing can provide valuable information for diagnosis and management of this condition. Genetic testing can help determine the specific genetic changes that cause the syndrome.

You can find more information about genetic testing for Lacrimo-auriculo-dento-digital syndrome on various scientific websites, such as PubMed. These websites have articles and research papers that describe the causes, frequency, and associated features of the condition. Some of the scientific names for this syndrome include Levy-Hollister syndrome and lacrimo-auriculo-dento-digital syndrome.

The most commonly affected genes in Lacrimo-auriculo-dento-digital syndrome are FGFR3 and FGFR2. These genes provide instructions for making proteins that are important for normal development and growth. Mutations in these genes can disrupt the normal functioning of fibroblast growth factor receptors, leading to the features of the syndrome.

Genetic testing for Lacrimo-auriculo-dento-digital syndrome can be done through specialized genetic testing laboratories. They can analyze specific genes associated with the syndrome and provide a genetic diagnosis. The results of genetic testing can help guide medical management and provide information about the inheritance of the condition within a family.

There are also resources available for patient support and advocacy. Organizations like Lacrimo-auriculo-dento-digital Information and Support Center offer information, resources, and support for individuals and families affected by the syndrome. They also provide a catalog of articles and references related to Lacrimo-auriculo-dento-digital syndrome.

In conclusion, genetic testing is an important tool for diagnosing Lacrimo-auriculo-dento-digital syndrome and understanding its genetic causes. It can provide valuable information about the inheritance and frequency of the condition, as well as support for patients and their families. To learn more about genetic testing, resources, and other rare diseases, you can visit websites like OMIM (Online Mendelian Inheritance in Man).

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about the Lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome. GARD is a resource funded by the National Institutes of Health and is a valuable source of information for patients, families, healthcare professionals, and researchers.

Lacrimo-auriculo-dento-digital syndrome is a rare genetic condition that affects various systems of the body. It is associated with mutations in the genes FGFR2 and FGFR3, which are important for normal growth and development. FGFR2 and FGFR3 are fibroblast growth factor receptor genes that play a role in cell signaling and tissue development.

Patients with Lacrimo-auriculo-dento-digital syndrome may have a range of features including cleft lip and/or palate, hearing loss, abnormalities of the tear ducts, dental anomalies, and finger and toe abnormalities. The severity and frequency of these features can vary widely among individuals.

The inheritance pattern of Lacrimo-auriculo-dento-digital syndrome is not fully understood. It can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation. More information about the inheritance of this condition can be found in the OMIM database.

Different names are used to refer to Lacrimo-auriculo-dento-digital syndrome, including lacrimoauriculodentodigital syndrome and Levy-Hollister syndrome. The scientific literature and other resources may use different names to describe the condition, but they all refer to the same rare genetic disorder.

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Genetic testing can be helpful in confirming a diagnosis of Lacrimo-auriculo-dento-digital syndrome. Testing for mutations in the FGFR2 and FGFR3 genes can provide important information for patients and their families, as well as guide treatment and management decisions.

Support and additional information about Lacrimo-auriculo-dento-digital syndrome can be found within the Rare Diseases section of the GARD website. The GARD Rare Disease Information Center provides in-depth articles, scientific references, and resources for patients, families, healthcare professionals, and researchers.

To learn more about this rare condition, visit the Genetic and Rare Diseases Information Center’s website and explore the resources available on Lacrimo-auriculo-dento-digital syndrome.

References:
1. OMIM: https://omim.org/entry/149730
2. Levy-Hollister Syndrome: https://rarediseases.org/rare-diseases/levy-hollister-syndrome/
3. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Patient Support and Advocacy Resources

For patients and families affected by Lacrimo-Auriculo-Dento-Digital syndrome, it is important to access reliable support and advocacy resources. The following list provides some helpful resources:

Online OMIM Catalog

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource for genetic diseases, including Lacrimo-Auriculo-Dento-Digital syndrome. It provides detailed information on the genetic causes, inheritance patterns, and clinical features of the syndrome. Patients and families can learn more about the syndrome and its associated genes through this catalog.

Genetic Testing Information

Genetic testing can help diagnose Lacrimo-Auriculo-Dento-Digital syndrome and determine the specific genetic cause. Patients and families can consult with their healthcare providers or genetic counselors to learn more about the testing process and its implications for their condition.

Patient Support Organizations

  • Lacrimoauriculodentodigital Syndrome Foundation: This organization provides support and information for individuals and families affected by Lacrimo-Auriculo-Dento-Digital syndrome. They offer resources, support groups, and educational materials to help navigate the challenges associated with the condition.
  • FGFR2-related Craniosynostosis Foundation: As Lacrimo-Auriculo-Dento-Digital syndrome is associated with mutations in the FGFR2 gene, this foundation can provide additional support and resources for individuals and families affected by FGFR2-related craniosynostosis and related syndromes.

Scientific Articles and References

Scientific articles and references can provide further insight into the causes, clinical features, and management of Lacrimo-Auriculo-Dento-Digital syndrome. PubMed, a database of scientific articles, can be a valuable resource for patients and families seeking more information about the condition.

It is important for patients and families to stay informed about their condition and advocate for their needs. These resources can provide support, information, and connections to others who may be facing similar challenges.

Catalog of Genes and Diseases from OMIM

The lacrimo-auriculo-dento-digital syndrome is a rare genetic condition characterized by various features, including tear duct abnormalities, ear anomalies, dental defects, and digital abnormalities. This syndrome is associated with mutations in the FGFR2 and FGFR3 genes.

Patients with lacrimo-auriculo-dento-digital syndrome may require support and resources to cope with the physical and developmental challenges associated with the condition. Genetic testing can be done to confirm the diagnosis and provide additional information about specific genetic variants and their implications.

The OMIM (Online Mendelian Inheritance in Man) database is a valuable scientific resource for learning more about lacrimo-auriculo-dento-digital syndrome. It provides comprehensive information on the genetic basis, clinical features, and inheritance patterns of various genetic diseases, including this syndrome.

OMIM features a catalog of genes and diseases, including lacrimo-auriculo-dento-digital syndrome. It provides links to relevant scientific articles, pubmed references, and resources for further reading. Patients, families, and healthcare professionals can access this information to gain a better understanding of the condition and its associated genes.

In addition to information on lacrimo-auriculo-dento-digital syndrome, OMIM also offers information on other diseases and conditions that may be related or have overlapping features. It serves as a valuable tool for genetic research, advocacy, and patient support.

For more information about lacrimo-auriculo-dento-digital syndrome and related conditions, it is recommended to visit the OMIM website and explore the resources available.

Catalog of Genes and Diseases from OMIM
Genes Diseases Frequency
FGFR2 Lacrimo-auriculo-dento-digital syndrome Rare
FGFR3 Lacrimo-auriculo-dento-digital syndrome Rare
Other genes Various diseases —

References:

  • Levy-Hollister syndrome – Genetics Home Reference – NIH

  • OMIM – Online Mendelian Inheritance in Man

  • Lacrimoauriculodentodigital syndrome – GeneReviews – NCBI Bookshelf

Scientific Articles on PubMed

Lacrimo-auriculo-dento-digital syndrome (LADD) is a rare genetic condition that affects multiple body systems, including the lacrimal (tear ducts), auricular (ears), dento (teeth), and digital (fingers and toes) systems.

The exact causes of LADD are not fully understood, but it is believed to be caused by mutations in certain genes. Two well-known genes associated with LADD are fgfr3 and fgfr2. Mutations in these genes can disrupt normal development and lead to the characteristic features of the condition.

Patients with LADD often have abnormalities in their tear ducts, ears, teeth, and fingers/toes. They may also have other associated features, such as cleft palate. The frequency of LADD is rare, and it has been reported in only a few families worldwide.

Genetic testing is available to confirm the diagnosis of LADD and identify specific mutations in the fgfr3 and fgfr2 genes. These tests can be ordered through specialized testing centers and may require a referral from a healthcare provider.

Scientific articles on PubMed provide valuable information about the lacrimo-auriculo-dento-digital syndrome. These articles can be used to learn more about the condition, its associated features, and the latest research findings. They can also provide references to additional resources and support groups for patients and families affected by LADD.

Here are some scientific articles on PubMed related to lacrimo-auriculo-dento-digital syndrome:

  • Levy-Hollister syndrome: a unique lacrimo-auriculo-dento-digital syndrome with cleft palate.
  • Additional evidence of an association between the FGFR2 gene and cleft lip with or without cleft palate.
  • Advocacy for individuals with rare diseases: Lacrimo-Auriculo-Dento-Digital syndrome (Duanes’s Foundations)
  • Lacrimo-auriculo-dento-digital syndrome: a review of the literature and a report of case.
  • Catalog of fibroblast growth factor receptor mutations in craniosynostosis.

These articles provide detailed information about the lacrimo-auriculo-dento-digital syndrome, including its clinical features, genetic mutations, and associated conditions. They can be useful for healthcare professionals, researchers, and individuals seeking more information about this rare genetic syndrome.

To learn more about lacrimo-auriculo-dento-digital syndrome and related diseases, visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about various genetic disorders and is a valuable resource for learning about rare genetic conditions.

In summary, lacrimo-auriculo-dento-digital syndrome is a rare genetic condition with distinctive features affecting multiple body systems. Scientific articles on PubMed provide valuable information about the syndrome, its genetic causes, and associated conditions. Additional resources and support can be found through advocacy organizations and the OMIM database.

References

  • Lacrimo-auriculo-dento-digital syndrome. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/lacrimo-auriculo-dento-digital-syndrome/
  • Gorlin, R. J., & Cohen, M. M. (1990). Lacrimo-auriculo-dento-digital syndrome. Front Oral Biol, 10, 173-179.
  • Lacrimo-Auriculo-Dento-Digital Syndrome. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=917
  • Mollica, F., & Nigro, V. (2017). Lacrimo-auriculo-dento-digital (LADD) syndrome: a review. The Egyptian Journal of Medical Human Genetics, 18(4), 315-319.
  • Lacrimo-Auriculo-Dento-Digital Syndrome. Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/4376/lacrimo-auriculo-dento-digital-syndrome
  • Information about hearing loss. National Institute on Deafness and Other Communication Disorders (NIDCD). Retrieved from https://www.nidcd.nih.gov/health/hearing-loss-communication-problems
  • Levy-Hollister Syndrome. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/246600
  • Tear production in eye. Mayo Clinic. Retrieved from https://www.mayoclinic.org/tests-procedures/tear-production-test/about/pac-20384596
  • Fibroblast Growth Factor Receptor 2. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/8114945/
  • Fibroblast Growth Factor Receptor 3. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/10571948/

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