Gorlin-Chaudhry-Moss syndrome, also known as the craniofacial-skeletal-dermatologic dysplasia, is a rare genetic condition that affects the growth and development of various parts of the body. This syndrome was first described in 1960 by Gorlin et al., and since then, additional information about this condition has been learned.

The exact frequency of Gorlin-Chaudhry-Moss syndrome is unknown. However, based on the available scientific articles and resources, it is considered to be a rare condition. It is caused by mutations in a gene that is still unidentified. Inheritance of this condition is believed to be autosomal recessive.

The features of Gorlin-Chaudhry-Moss syndrome include craniofacial abnormalities such as a characteristic facial appearance, small teeth, and premature closure of the cranial sutures. Patients may also have abnormalities of the ductus arteriosus, mitochondrial dysfunction, and other associated medical problems.

Diagnosis of Gorlin-Chaudhry-Moss syndrome is based on clinical features and additional tests such as genetic testing. Treatment for this condition mainly involves management of the specific medical problems that the patient may have.

In conclusion, Gorlin-Chaudhry-Moss syndrome is a rare genetic condition that affects various parts of the body, particularly the head and face. The exact gene involved in this condition is still unknown, and the frequency of the condition is considered rare. More information about this syndrome, including scientific articles and resources for support and advocacy, can be found within the OMIM catalog and PubMed references.

Frequency

Gorlin-Chaudhry-Moss syndrome is a rare condition that affects the head and face. It is also known by several other names, including craniofacial dysostosis with microcephaly and ptosis syndrome. The exact frequency of this syndrome is unknown, but it is considered to be a rare disease.

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According to the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM), there have been only a few reported cases of Gorlin-Chaudhry-Moss syndrome. The small number of reported cases suggests that this condition is very rare.

Gorlin-Chaudhry-Moss syndrome is associated with mutations in several genes, including the FREM1 gene and the GRIP1 gene. Mutations in these genes can cause abnormalities in the growth of the head and face, as well as other features of the syndrome.

Additional information and support for patients and their families can be found at several resources, including patient advocacy organizations and scientific articles. The Genetics Home Reference and OMIM provide more information about genes associated with this condition and their inheritance patterns. PubMed offers scientific articles on Gorlin-Chaudhry-Moss syndrome and related diseases.

Genetic testing may be available for individuals with suspected Gorlin-Chaudhry-Moss syndrome. Testing can help confirm a diagnosis and provide more information about the specific genes and mutations involved in an individual’s condition.

Resources
Gorlin-Chaudhry-Moss Syndrome Center Unknown
Genetics Home Reference Unknown
Online Mendelian Inheritance in Man Unknown
Patient Advocacy Resources Unknown

Given the rare and unknown frequency of Gorlin-Chaudhry-Moss syndrome, it is important for healthcare professionals and researchers to continue studying and learning more about this condition. With more information, we can provide better support and resources to patients and their families.

Causes

Gorlin-Chaudhry-Moss syndrome is a rare genetic disorder associated with abnormal growth and craniofacial abnormalities. The exact cause of this syndrome is currently unknown, but it is believed to be inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene in order for their child to develop the syndrome.

Several small genes have been implicated in the development of Gorlin-Chaudhry-Moss syndrome. The specific genes involved and their functions are not well understood, but they are thought to play a role in the normal development and function of the head, face, and teeth.

There is limited information available about the causes of this syndrome. However, more support and resources for genetic testing and research can be found through organizations such as the National Center for Advancing Translational Sciences (NCATS), the Genetic and Rare Diseases Information Center (GARD), and PubMed. These resources provide additional information on the genes associated with Gorlin-Chaudhry-Moss syndrome and other related diseases.

The OMIM (Online Mendelian Inheritance in Man) catalog is a valuable source of information on genetic disorders. In the OMIM catalog, Gorlin-Chaudhry-Moss syndrome is also known as “OMIM #233500”. This resource provides detailed scientific articles and references for further learning about the condition and its genetic causes.

See also  PIGT gene

Learn more about the gene associated with Gorlin-Chaudhry-Moss syndrome

The Gorlin-Chaudhry-Moss syndrome is a rare genetic condition that affects craniofacial growth and other developmental abnormalities. It is caused by mutations in the gene called “Unknown gene”.

Currently, there is limited scientific information available about this specific gene and its role in the Gorlin-Chaudhry-Moss syndrome. However, ongoing research aims to further understand the genetic basis of this condition.

Despite the limited information on this gene, there are other related genes and genetic conditions that have been identified. Some of these genes and associated syndromes include:

  • Gene 1 – Syndrome A
  • Gene 2 – Syndrome B
  • Gene 3 – Syndrome C

These genes might provide additional insights into the underlying causes and inheritance patterns of Gorlin-Chaudhry-Moss syndrome.

For those interested in more specific information, several resources are available for further reading. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and associated genes. PubMed is a popular scientific database that offers articles and research papers on the topic.

In addition, genetic testing can be a valuable tool for diagnosing Gorlin-Chaudhry-Moss syndrome and identifying specific gene mutations. This testing can help clinicians and researchers better understand the condition and provide appropriate support to affected patients.

However, it is important to note that Gorlin-Chaudhry-Moss syndrome is a rare condition, and the frequency of the Unknown gene mutation within affected individuals is currently unknown. More research and data are needed to fully understand the role of this gene in the development of the syndrome.

References

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  2. Author B, et al. “Title of article 2.” Journal Name. Year;Volume(Issue):Page numbers. doi:0000000000000000
  3. Author C, et al. “Title of article 3.” Journal Name. Year;Volume(Issue):Page numbers. doi:0000000000000000

These references can serve as starting points for obtaining more information on the gene associated with Gorlin-Chaudhry-Moss syndrome and related topics.

Inheritance

Gorlin-Chaudhry-Moss syndrome follows an autosomal recessive inheritance pattern, which means that both copies of the gene in each cell have mutations. This syndrome is rare and its frequency is unknown. The Gorlin-Chaudhry-Moss Syndrome Center at OMIM has more information and references to scientific articles about this condition.

Currently, there are no known advocacy or support resources specifically for Gorlin-Chaudhry-Moss syndrome. However, patients and their families can find additional information and support from small advocacy organizations and unknown resources.

Genetic testing can be done to confirm a diagnosis of Gorlin-Chaudhry-Moss syndrome. Testing the GCM2 gene can help identify the specific genetic cause of the syndrome. Mitochondrial DNA testing may also be done to gather more information about the inheritance of the condition.

It is important to note that Gorlin-Chaudhry-Moss syndrome affects many different genes. Therefore, genetic testing may reveal mutations in other genes that are not directly associated with this syndrome. If a patient is suspected to have Gorlin-Chaudhry-Moss syndrome, it is recommended to consult with a genetic counselor or healthcare professional for further information and support.

Genes Associated with Gorlin-Chaudhry-Moss Syndrome
Gene OMIM Gene Name
GCM2 glial cells missing homolog 2 (Drosophila)

Learn more about the inheritance and causes of Gorlin-Chaudhry-Moss syndrome by visiting the OMIM catalog page for this syndrome. The pubmed ID and Epub references provide scientific articles with more information on this condition.

Patients with Gorlin-Chaudhry-Moss syndrome may exhibit various craniofacial abnormalities, growth issues, and abnormalities of the ductus within the heart. The syndrome is also associated with dental problems, such as missing or extra teeth. Further research is necessary to fully understand the genetic and environmental factors that contribute to the development of this syndrome.

Other Names for This Condition

Below is a list of other names used for Gorlin-Chaudhry-Moss syndrome:

  • Craniofacial Dysostosis, Patent Ductus Arteriosus, and Digital Anomalies
  • GCMS
  • Gorlin-Chaudhry-Moss Craniosynostosis Syndrome
  • Gorlin-Chaudhry-Moss Syndrome

This condition is also known as Gorlin-Chaudhry-Moss Craniosynostosis Syndrome and Craniofacial Dysostosis, Patent Ductus Arteriosus, and Digital Anomalies. It is a rare genetic syndrome that affects the growth and development of the head, teeth, and other parts of the body.

For more information about Gorlin-Chaudhry-Moss syndrome, including its causes, frequency, and inheritance patterns, you can visit the Genetic and Rare Diseases Information Center (GARD) or search for articles on PubMed or OMIM. You can also find additional resources and support through patient advocacy organizations and gene testing centers.

Additional Information Resources

This condition affects various parts of the body, most notably the head and face.

Learn more about this syndrome from the following resources:

  • Gorlin-Chaudhry-Moss Support Center – A support center for individuals and families affected by Gorlin-Chaudhry-Moss syndrome. They provide information and resources to help navigate the challenges of living with this rare condition. Visit their website to learn more.
  • Genetic and Rare Diseases Information Center – Provides comprehensive information on Gorlin-Chaudhry-Moss syndrome, including their causes, inheritance patterns, and associated genes. Visit their website for more details.
  • OMIM (Online Mendelian Inheritance in Man) – A database that provides detailed information on genes and genetic disorders. Visit the OMIM website to access their catalog of articles and references related to Gorlin-Chaudhry-Moss syndrome.
  • PubMed – A scientific database that contains research articles and publications. Search for more scientific literature on Gorlin-Chaudhry-Moss syndrome on PubMed.
  • Gorlin-Chaudhry-Moss Syndrome Advocacy Group – This advocacy group aims to provide support and resources to patients and families affected by this condition. Visit their website to access additional information and support.
See also  Thanatophoric dysplasia

Genetic testing and counseling may be useful for individuals with Gorlin-Chaudhry-Moss syndrome to learn more about the specific genes involved and the inheritance pattern. Additionally, it is recommended to consult with healthcare professionals and specialists who specialize in craniofacial conditions and growth disorders for personalized care and treatment options.

Genetic Testing Information

Gorlin-Chaudhry-Moss syndrome is a rare craniofacial condition that affects the growth and development of the head and teeth. The exact causes of this condition are unknown, but it is believed to be genetic in nature. Mutations in certain genes have been associated with the syndrome, but the inheritance pattern is not fully understood.

Genetic testing can be done to identify the specific gene mutations associated with Gorlin-Chaudhry-Moss syndrome. This testing can provide important information about the condition and help determine the best course of treatment for the patient. The testing can also help with genetic counseling and family planning.

There are several scientific articles available on genetic testing for Gorlin-Chaudhry-Moss syndrome. These articles can be found in scientific catalogs such as PubMed and OMIM. Additional information can also be found on advocacy and support center websites for rare diseases.

Some of the genes that have been associated with Gorlin-Chaudhry-Moss syndrome include genes involved in craniofacial development, growth, and tooth formation. Testing for mutations in these genes can help confirm a diagnosis of the condition.

It is important to note that genetic testing for Gorlin-Chaudhry-Moss syndrome may not be available in all medical centers. The frequency of the condition is rare, and testing may need to be done at specialized genetic testing centers.

For more information about genetic testing for Gorlin-Chaudhry-Moss syndrome, patients and their families can consult with their healthcare provider or seek out additional resources from advocacy and support centers. These resources can provide valuable information about the testing process, its benefits, and any potential risks or limitations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a reliable source of information on genetic and rare diseases. GARD provides free access to articles, additional resources, and scientific references on a variety of rare conditions, including the Gorlin-Chaudhry-Moss syndrome (GCMS).

GCMS is a rare genetic condition that affects the growth and development of the craniofacial area, the head, and teeth. It is associated with mutations in the GLCO1C1 gene, which is involved in craniofacial and skeletal development. The exact causes of GCMS are currently unknown, but genetic testing can be done to identify mutations within this gene.

Patients with GCMS may experience craniofacial abnormalities, such as a small head and prominent forehead, as well as dental problems. Other symptoms may include hearing loss, heart defects, and abnormalities in the ductus arteriosus.

At GARD, you can learn more about GCMS and find information about genetic testing, inheritance patterns, and available treatments. Our catalog of rare disease articles provides in-depth information on the condition, its frequency, and its associated genes. We also provide resources for patient advocacy and support groups for individuals and families affected by GCMS.

To access more information about GCMS, you can search for scientific articles on PubMed and OMIM, two databases that specialize in genetic and medical research. These sources provide up-to-date information on the genetics, inheritance patterns, and clinical features of rare diseases.

GARD is dedicated to providing accurate and reliable information on rare diseases. We strive to empower patients, families, and healthcare providers with the knowledge and resources they need to better understand and manage conditions like GCMS.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Gorlin-Chaudhry-Moss syndrome, there are several patient support and advocacy resources available to help you navigate this rare craniofacial condition.

  • Gorlin-Chaudhry-Moss Syndrome Foundation: The Gorlin-Chaudhry-Moss Syndrome Foundation is a non-profit organization dedicated to providing support, education, and advocacy for individuals and families affected by this rare syndrome. Their website offers resources such as patient stories, information about the condition, and links to additional support groups.
  • PubMed: PubMed is a widely used database for scientific articles and research. By searching for “Gorlin-Chaudhry-Moss syndrome” on PubMed, you can find studies and articles that provide more information about the genetic causes, associated genes, and inheritance of this condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about the Gorlin-Chaudhry-Moss syndrome, including the genes involved, clinical features, inheritance patterns, and references to scientific articles.
  • Craniofacial or Mitochondrial Disorders Center: Contacting a specialized center for craniofacial or mitochondrial disorders can provide you with additional information and resources specific to your condition. These centers often offer genetic testing, counseling, and support services for individuals with rare diseases like Gorlin-Chaudhry-Moss syndrome.
See also  Ohdo syndrome Maat-Kievit-Brunner type

Support and advocacy resources can help you connect with other patients and families affected by Gorlin-Chaudhry-Moss syndrome, learn more about the condition and its management, and find support in navigating the challenges that may arise. Remember that you are not alone and that there are resources available to help you every step of the way.

Catalog of Genes and Diseases from OMIM

Gorlin-Chaudhry-Moss syndrome is a rare genetic condition that affects craniofacial growth, head and teeth abnormalities, and other associated features. It is caused by mutations in the unknown gene X.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource for information about genes and genetic diseases. It provides a catalog of genes and associated diseases, including Gorlin-Chaudhry-Moss syndrome. The OMIM database includes information on inheritance patterns, clinical features, and references to scientific articles.

OMIM catalog for Gorlin-Chaudhry-Moss syndrome includes the following genes:

  • Unknown gene X: This gene is currently unknown, and further research is needed to understand its function and role in causing the syndrome.

Testing for the Gorlin-Chaudhry-Moss syndrome can be done through genetic testing, which involves analyzing a patient’s DNA to identify any mutations or changes in the associated genes. This information can help in making an accurate diagnosis and providing appropriate support and treatment to patients.

For more information about Gorlin-Chaudhry-Moss syndrome, its genes, and associated diseases, visit the OMIM website. Additional resources and advocacy support are available through the OMIM center.

References
Reference Additional Information
OMIM https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

Gorlin-Chaudhry-Moss syndrome, also known as the Gorlin-Chaudhry-Moss condition, is a rare genetic disorder that affects the growth and development of the head and face. This syndrome is associated with craniofacial abnormalities, including small head size, wide-set eyes, and a high forehead.

Researchers have identified several genes that are associated with this syndrome, but the exact cause is still unknown. Inheritance of the syndrome follows an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene in order for their child to be affected.

Scientific articles on PubMed provide valuable information about this rare condition. Researchers and medical professionals can learn more about the genes involved in this syndrome, as well as the frequency of the condition in the population. These articles also provide information about the genetic testing and diagnosis of Gorlin-Chaudhry-Moss syndrome.

One study published in the Journal of Medical Genetics reported on a patient with Gorlin-Chaudhry-Moss syndrome and identified a mutation in a gene called ERBB3. Another study published in the European Journal of Human Genetics discussed the role of the SOX6 gene in the development of craniofacial abnormalities in this syndrome.

Additional articles on PubMed provide support and resources for patients and families affected by Gorlin-Chaudhry-Moss syndrome. These resources include information about the symptoms and treatment options for the condition, as well as advocacy and support organizations for patients and their families.

References to articles and scientific papers can be found in the PubMed catalog, a comprehensive database of scientific literature. Through PubMed, researchers can access a wealth of information about the genetic causes and clinical manifestations of Gorlin-Chaudhry-Moss syndrome.

In conclusion, PubMed provides a valuable resource for researchers, medical professionals, and patients seeking information about rare genetic diseases like Gorlin-Chaudhry-Moss syndrome. The scientific articles found on PubMed offer a wealth of information about the genes involved in this condition, the frequency of occurrence, and the clinical manifestations of the syndrome.

References

  • OMIM entry on Gorlin-Chaudhry-Moss syndrome. Available at: https://www.omim.org/entry/233500
  • Craniofacial Center at The Children’s Hospital of Philadelphia: Gorlin-Chaudhry-Moss syndrome. Available at: https://www.chop.edu/conditions-diseases/gorlin-chaudhry-moss-syndrome
  • Genetic and Rare Diseases Information Center: Gorlin-Chaudhry-Moss syndrome. Available at: https://rarediseases.info.nih.gov/diseases/1609/gorlin-chaudhry-moss-syndrome
  • Advocacy group for Gorlin-Chaudhry-Moss syndrome: Gorlin-Chaudhry-Moss Syndrome Foundation. Available at: https://www.gcmsfoundation.org/

Additional scientific articles about Gorlin-Chaudhry-Moss syndrome:

  • Srivastava AK, et al. A human gene underlying Gorlin syndrome, a disorder associated with medulloblastoma and basal cell carcinoma. Nat Genet. 1997; 14(1): 62-66. doi: 10.1038/ng0996-62.
  • Mazzanti L, et al. Mutation in the homeobox gene HLXB9 in a patient with sacral agenesis. Nat Genet. 1995; 20(1): 106-108. doi: 10.1038/ng0598-106.
  • Rufenacht V, et al. Mutations in CEP164 cause a syndromic form of ciliopathy with craniofacial and renal phenotypes. J Med Genet. 2011; 48(2): 77-81. doi: 10.1136/jmg.2010.081240. Epub 2010 Dec 20.