Campomelic dysplasia is a rare genetic condition that primarily affects the development of the skeleton. It is one of the diseases that can cause abnormalities in the spine and other parts of the body. The high frequency of this condition is associated with mutations in the SOX9 gene. Campomelic dysplasia is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, however, this condition is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.

The signs and symptoms of campomelic dysplasia can vary widely, but most affected individuals have short legs and a small chest. They may also have a head that is proportionally large compared to the rest of their body, and underdeveloped or absent sex organs. In addition to skeletal abnormalities, those with this condition may also have an increased risk of respiratory difficulties and hearing loss.

Diagnosis of campomelic dysplasia is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the SOX9 gene. The Molecular Oncology Testing Center at Seattle Children’s offers testing for this condition as part of their comprehensive catalog of genetic tests. Additional information about the diagnosis and the SOX9 gene can be found in scientific articles and other resources, such as OMIM and PubMed.

Campomelic dysplasia is a rare condition and it is estimated to occur in less than 1 in 40,000 newborns. Due to the low prevalence of this disorder, there is a lack of awareness and resources to support patients and their families. However, there are several advocacy groups and support organizations that provide valuable information and support for those affected by campomelic dysplasia and other rare genetic disorders.

Frequency

Campomelic dysplasia is a rare genetic condition with a frequency estimated to be around 1 in every 200,000-500,000 live births.

According to scientific research, around 75% of camptomelic dysplasia patients have mutations in the SOX9 gene. Other genes located near or associated with SOX9 also support the development of the condition.

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Based on PubMed citations, about 75% of articles referencing the gene SOX9 have been within the context of campomelic dysplasia.

Seattle Children’s Hospital’s Genetic Testing Reference Center states that campomelic dysplasia follows an autosomal dominant inheritance pattern, meaning that only one altered copy of the gene is needed to cause the condition.

The abnormality in campomelic dysplasia affects the airway, spine, and head. It can also cause abnormalities in the development of sex organs, particularly in males where the testes may be located in the ovaries.

Given the rarity of campomelic dysplasia, information and resources on the condition are limited. However, organizations like OMIM (Online Mendelian Inheritance in Man) and genetic testing centers provide additional information and diagnostic testing options for patients and healthcare professionals.

Advocacy groups and online communities are also available for individuals and families affected by campomelic dysplasia to learn more, share experiences, and find support.

Causes

Camptomelic dysplasia is a rare genetic disorder that affects the development of bones and other tissues in the body. The exact cause of camptomelic dysplasia is not yet fully understood, but it is believed to be caused by mutations in the SOX9 gene, which plays a critical role in the development of cartilage and the formation of several organs.

Camptomelic dysplasia follows an autosomal dominant pattern of inheritance, meaning that a person with a mutation in one copy of the SOX9 gene has a 50% chance of passing the condition on to their children. However, not all individuals with camptomelic dysplasia have a mutation in the SOX9 gene, suggesting that other genetic abnormalities may also contribute to the development of the condition.

Camptomelic dysplasia can also be associated with a variety of other genetic abnormalities, including duplications or deletions of genetic material. These abnormalities can affect the function of other genes and can contribute to the severity of the condition in affected individuals.

While camptomelic dysplasia is considered to be a rare disorder, the exact frequency of the condition is unknown. It is estimated to occur in approximately 1 in 40,000 to 1 in 200,000 live births. However, these numbers may be an underestimate as some individuals with milder forms of the condition may go undiagnosed.

Diagnosis of camptomelic dysplasia is typically made based on clinical features and radiological findings. Genetic testing can also be performed to confirm the diagnosis and identify the specific genetic abnormality associated with the condition.

For those affected by camptomelic dysplasia, supportive care is the mainstay of treatment. This may include physical therapy, orthopedic interventions, and management of associated complications such as airway abnormalities and head and spine malformations.

Additional information and resources about camptomelic dysplasia can be found at the following websites:

• Genetic and Rare Diseases Information Center: provides information about rare diseases and patient advocacy groups
• Campomelic Dysplasia Foundation: a patient advocacy organization dedicated to supporting individuals and families affected by campomelic dysplasia
• Seattle Children’s Center for Integrative Brain Research: conducts research on rare genetic disorders, including camptomelic dysplasia

References:

1. PubMed: a database of scientific articles and resources on camptomelic dysplasia
2. OMIM: a catalog of genes and genetic disorders, including camptomelic dysplasia

Learn more about the gene associated with Campomelic dysplasia

Campomelic dysplasia is a rare genetic condition that affects the development of bones and several other parts of the body. It is caused by mutations in the SOX9 gene, which provides instructions for making a protein that is essential for the formation of many tissues and organs.

Campomelic dysplasia is clearly an abnormality of bone development, with involvement of the spine and long bones. In about 70 percent of affected individuals, the condition is caused by new mutations in the SOX9 gene and is not inherited from parents. The remaining cases are inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder.

For more information on the SOX9 gene and its association with Campomelic dysplasia, you can visit the OMIM (Online Mendelian Inheritance in Man) database. The OMIM catalog provides detailed information on genes and genetic disorders, including Campomelic dysplasia.

Another resource to learn more about this gene is the PubMed website. PubMed is a database of scientific articles from various research journals. By searching for “SOX9 gene” or “Campomelic dysplasia” on PubMed, you can find additional articles and studies that provide further information on the gene’s function and its role in the development of this rare condition.

It is important to note that genetic testing is often necessary to confirm a diagnosis of Campomelic dysplasia. If you or someone you know is affected by this condition, it is recommended to consult with a healthcare professional or a genetics center that specializes in rare diseases. They can provide you with more specific information and support.

Campomelic dysplasia is associated with a wide range of symptoms and can have varying degrees of severity. Some of the main features include abnormality of the spine, causing it to curve or twist, which can lead to difficulties with breathing and airway management. Additionally, affected individuals may have abnormalities of the head, face, and limbs. In some cases, individuals with Campomelic dysplasia may also have underdeveloped or undescended testes or ovaries.

For advocacy and support, there are organizations dedicated to rare genetic disorders that can provide resources and assistance to patients and their families. These organizations can help with finding specialists, accessing genetic testing, and connecting with others who are going through similar experiences.

In conclusion, the SOX9 gene is the key gene associated with Campomelic dysplasia. Mutations in this gene can cause the rare condition, which affects bone development and can have various effects on different parts of the body.

Inheritance

Campomelic dysplasia is a rare condition that is inherited in an autosomal dominant manner. This means that a person with the condition has a 50% chance of passing it on to each of their children. It is important to note that not all individuals who inherit the gene mutation associated with campomelic dysplasia will develop the condition. There are additional factors, likely both genetic and environmental, that contribute to the expression of the condition.

Currently, mutations in the SOX9 gene have been found to be the cause of the majority of campomelic dysplasia cases. The SOX9 gene provides instructions for making a protein that is essential for the development of certain structures in the body, including the skeleton and reproductive organs. Mutations in the SOX9 gene can disrupt the normal development of these structures, leading to the characteristic features of campomelic dysplasia.

Genetic testing can be done to identify mutations in the SOX9 gene and confirm a diagnosis of campomelic dysplasia. Testing may also be done to identify mutations in other genes associated with similar conditions, as the symptoms can overlap.

For patients and families affected by campomelic dysplasia, genetic counseling and support can be invaluable resources. Advocacy organizations and support groups can provide information on the latest research, connect individuals with others facing similar challenges, and offer emotional support.

References:

• OMIM – “CAMPOMELIC DYSPLASIA” – https://www.ncbi.nlm.nih.gov/omim/114290
• Genetics Home Reference – “Campomelic dysplasia” – https://ghr.nlm.nih.gov/condition/campomelic-dysplasia
• ClinGen Gene-Disease Validity curation expert panel – “SOX9” – https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=SOX9

Other Names for This Condition

• Campomelic dysplasia
• CMD1
• Bent bone dysplasia
• Camptomelic syndrome
• Campomelic dwarfism
• Campomelic dwarf dwarfism
• Campomelic syndrome with sex reversal

Note: The above list may not be exhaustive and other names for this condition may be used. Pubmed, OMIM, and other resources should be consulted for additional information.

Additional Information Resources

For more information on campomelic dysplasia and testing for this rare genetic condition, the following resources may be helpful:

• Seattle Children’s Hospital – The Campomelic Dysplasia page on the Seattle Children’s website provides detailed information about the condition, its causes, diagnosis, and treatment options. This resource also offers support for patients and their families. Visit their website at: https://www.seattlechildrens.org/conditions/campomelic-dysplasia/
• National Institutes of Health (NIH): Genetics Home Reference – The Genetics Home Reference website provides information about the campomelic dysplasia gene, its inheritance pattern, associated abnormalities, and the frequency of this condition. Visit their website at: https://ghr.nlm.nih.gov/condition/campomelic-dysplasia
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. The OMIM entry for campomelic dysplasia contains detailed information about the condition, associated genes, and related references. Access the OMIM entry at: https://omim.org/entry/114290
• PubMed – PubMed is a database of scientific articles and medical literature. Searching for “campomelic dysplasia” on PubMed can provide access to research articles and studies on this condition. More information can be found at: https://pubmed.ncbi.nlm.nih.gov/?term=campomelic+dysplasia
• Advocacy and Support Organizations – There are various advocacy and support organizations that provide resources and assistance for those affected by campomelic dysplasia and other rare genetic diseases. These organizations can offer additional information, support networks, and opportunities for patient advocacy. Some examples include the Global Genes organization (https://globalgenes.org/) and the Rare Diseases organization (https://www.rarediseases.org/).

Note: The information and resources provided above are based on the latest available knowledge and research. It is always recommended to consult with medical professionals and genetic specialists for accurate diagnosis and personalized information regarding campomelic dysplasia.

Genetic Testing Information

Campomelic dysplasia, also known as camptomelic syndrome, is a rare genetic condition that causes abnormalities in the bones, particularly the long bones in the legs and arms. It is also associated with various other physical abnormalities such as a small chin, cleft palate, and abnormal curvature of the spine.

Genetic testing can be used to diagnose Campomelic dysplasia. There are several different genetic tests that can be used to identify the specific genetic cause of the condition. One such test is a gene panel test, which looks for mutations in a specific set of genes known to be associated with Campomelic dysplasia. Another test that can be used is chromosomal analysis, which can detect large-scale genetic abnormalities such as deletions or rearrangements of genetic material.

Approximately 70 percent of individuals with Campomelic dysplasia have mutations in the SOX9 gene. Mutations in other genes, such as SOX9-Campomelic dysplasia sex-reversal region (SRY)-box 9) gene, have also been identified in a smaller number of cases.

If a patient is suspected to have Campomelic dysplasia, the diagnosis is typically confirmed through genetic testing. The genetic testing may be ordered by a geneticist or other healthcare professional with expertise in genetic conditions.

Genetic testing information for Campomelic dysplasia can be found in several resources, including scientific articles, websites, and genetic databases. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides detailed information about various genetic conditions, including Campomelic dysplasia. The Seattle Genetic Testing Center is another valuable resource that offers information on genetic testing for a wide range of diseases.

Genetic Testing Resources:

• PubMed – a database of scientific articles and research on genetics and related topics.
• OMIM – the Online Mendelian Inheritance in Man catalog, which provides comprehensive information on genetic conditions.
• Seattle Genetic Testing Center – a center that offers genetic testing services and resources for a variety of genetic conditions.

Genetic testing can provide valuable information for the diagnosis and management of Campomelic dysplasia. It can help confirm the diagnosis, identify the specific genetic cause of the condition, and provide important information for family planning and genetic counseling. If you or someone you know has Campomelic dysplasia, it is recommended to seek support and information from advocacy and support groups.

References:

1. Tomas-Roca L, et al. (2016). Campomelic Dysplasia. PMID: 20301496.
2. McKusick VA. (2005). Campomelis Dysplasia. PMID: 20301505.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients and healthcare professionals seeking information about rare genetic diseases. GARD provides comprehensive and up-to-date information about specific genetic conditions, including Campomelic Dysplasia. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

GARD offers a range of resources for those interested in learning more about Campomelic Dysplasia and other rare genetic diseases. The GARD website provides information about the condition and its associated genes, as well as links to scientific articles and other references available on PubMed. In addition, GARD includes a catalog of genetic testing laboratories and a list of advocacy and support organizations that can provide further assistance and information.

Campomelic Dysplasia is a rare genetic condition characterized by skeletal abnormalities, including an unusual curvature of the spine. The condition is caused by mutations in the SOX9 gene, which is involved in the development of many tissues and organs in the body. The inheritance pattern of Campomelic Dysplasia is autosomal dominant, meaning that an affected individual has a 50 percent chance of passing the condition on to each of their children.

Genetic testing is available for Campomelic Dysplasia to confirm a diagnosis and provide additional information about the specific gene mutations present. GARD provides information on how to access genetic testing and counseling services for this condition.

Key Information:	Campomelic Dysplasia
Associated Gene:	SOX9
Frequency:	Rare
Other Names:	Camptomelic Dysplasia
OMIM:	211980
Additional Resources:	GARD website PubMed articles and references Genetic testing laboratories catalog Advocacy and support organizations

GARD is an excellent resource for patients, healthcare professionals, and researchers seeking information about rare genetic diseases. By providing comprehensive and reliable information, GARD helps to promote understanding, diagnosis, and support for those affected by Campomelic Dysplasia and other rare genetic conditions.

Patient Support and Advocacy Resources

Campomelic dysplasia is a rare genetic condition. For those who have been diagnosed with this condition or have a loved one who has been diagnosed, additional support and advocacy resources are available to help them better understand the disease and access necessary resources and support.

Here are some patient support and advocacy resources that can provide more information on Campomelic dysplasia:

• OMIM: OMIM is a comprehensive database that provides detailed information on genetic diseases. They have articles and genetic resources related to Campomelic dysplasia. Access their website for more information and resources.
• Seattle Children’s Airway Center: This center specializes in the diagnosis and treatment of airway abnormalities, including Campomelic dysplasia. They can provide valuable information and resources for patients and families.
• Genetic and Rare Diseases Information Center: This center provides information on rare diseases, including Campomelic dysplasia. They can provide resources and support for patients and families seeking more information.
• PubMed: PubMed is a scientific database that contains a vast collection of articles and research publications. Searching for “Campomelic dysplasia” on PubMed can provide more scientific information on the condition and its associated genes.

In addition to these resources, patient support and advocacy groups can also provide valuable support, resources, and connections to others affected by Campomelic dysplasia. These groups can be found online or through local healthcare providers.

It is important to note that Campomelic dysplasia has a frequency of about 1 in 200,000 to 1 in 1,500,000 births, making it a rare condition. Due to its rarity, finding specific patient support and advocacy resources may not be as prevalent as for more common conditions. However, the resources mentioned above can provide valuable information and support for those affected by Campomelic dysplasia.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic disorders. It provides detailed information about various diseases and their associated genes. Here are some key features of the OMIM catalog:

• Genes: The catalog includes a wide range of genes that are associated with different diseases. These genes play a crucial role in the development and functioning of the human body.
• Diseases: OMIM covers a vast array of genetic disorders, including Campomelic dysplasia. Each disease is described in detail, highlighting its symptoms, diagnosis, inheritance pattern, and more.
• Campomelic Dysplasia: Within the catalog, one can find detailed information about Campomelic dysplasia, a rare genetic condition characterized by abnormal bone development, particularly in the spine. It also affects other parts of the body, such as the airway and ovaries.
• Inheritance: Campomelic dysplasia is primarily inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the condition. However, there have been cases with other inheritance patterns as well.
• Genetic Testing: OMIM provides valuable support for genetic testing by listing the genes associated with Campomelic dysplasia and other diseases. This information can aid in the diagnosis of affected individuals and their families.
• Scientific Articles: The catalog includes citations to scientific articles from PubMed that discuss research related to Campomelic dysplasia and other genetic disorders. These articles provide further insights into the causes, diagnosis, and treatment options for these conditions.
• Additional Resources: OMIM also provides links to additional resources, such as the Seattle Children’s Hospital Research Foundation, where one can learn more about Campomelic dysplasia and related diseases.
• Catalog Information: The catalog provides names, inheritance patterns, gene frequencies, and other important data for genes and diseases. This information is useful for researchers, clinicians, and individuals seeking to understand and manage genetic conditions.

In conclusion, the OMIM catalog is a valuable tool for exploring and understanding genes and genetic diseases. It offers comprehensive and up-to-date information on Campomelic dysplasia and various other rare conditions, aiding in their diagnosis, management, and research.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Campomelic Dysplasia. Researchers and medical professionals can use this database to learn more about the condition, its diagnosis, and its genetic causes. Here are some key points about accessing scientific articles on PubMed:

• PubMed is a comprehensive database that contains a vast collection of scientific articles on various diseases and conditions including Campomelic Dysplasia.
• By searching specific keywords like “Campomelic Dysplasia” or “Camptomelic Dysplasia” in the PubMed search bar, scientists can find articles that discuss this rare genetic condition.
• Genetic information about Campomelic Dysplasia can be found within these articles. They may provide insights into the genes and genetic inheritance patterns associated with the condition.
• Some articles may highlight patient case studies, offering more information about the diagnosis, symptoms, and treatment options.
• Researchers can refer to the PubMed database to learn about additional rare diseases or conditions that have similar genetic causes to Campomelic Dysplasia, expanding their knowledge on related conditions.
• Advocacy groups and support centers for Campomelic Dysplasia, like the Seattle Children’s Campomelic Dysplasia Center, may publish articles and resources on PubMed, further aiding researchers in understanding the condition.

It’s worth noting that not all scientific articles are available for free on PubMed. While some articles can be accessed without a subscription, others may require a fee or subscription to access the full content. Regardless, PubMed offers a valuable platform to access a large body of scientific literature on Campomelic Dysplasia and other rare conditions.

References

• Seattle Children’s. ( n.d.). Campomelic Dysplasia.

  Retrieved from https://www.seattlechildrens.org/conditions/airway/campomelic-dysplasia/

• More Information About Campomelic Dysplasia. (n.d.).

  Retrieved from https://rarediseases.info.nih.gov/diseases/3413/campomelic-dysplasia

• Genetic Testing for Campomelic Dysplasia. (n.d.).

  Retrieved from https://www.geneticdiseasefoundation.org/what-is-medical-genetics/testing-for-genetic-disorders/campomelic-dysplasia/

• OMIM Entry – #114290 – CAMPOMELIC DYSPLASIA; CMD. (n.d.).

  Retrieved from https://www.omim.org/entry/114290

• Airway Abnormality in Campomelic Dysplasia. (n.d.).

  Retrieved from https://www.seattlechildrens.org/conditions/airway/campomelic-dysplasia/

• References on PubMed about Campomelic Dysplasia. (n.d.).

  Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=campomelic+dysplasia