Caffey disease, also known as infantile cortical hyperostosis, is a rare genetic condition that affects infants. It was first described in 1945 by Dr. Roscoe O. Caffey, hence the name. This condition is characterized by the rapid development of bone lesions in the infant’s bones, especially in the long bones.
Associated with this condition are inflammation and swelling of the affected bones, which may cause pain and discomfort for the infant. The exact causes of Caffey disease are still being studied, but it is believed to be related to genetic factors. Research and genetic testing have revealed mutations in certain genes to be associated with the development of this condition.
The symptoms of Caffey disease usually appear in infants between the ages of two weeks and five months. They can include irritability, fever, and swelling of the affected bones. Diagnosing this condition involves a combination of clinical examination, x-ray imaging, and genetic testing.
Since Caffey disease is a rare condition, resources and support for affected families can be limited. However, various advocacy organizations and support groups have been established to provide information, resources, and support for patients and families dealing with this disease. The National Institutes of Health (NIH) and the Online Mendelian Inheritance in Man (OMIM) are valuable sources of scientific and genetic information on Caffey disease and other rare genetic disorders.
In conclusion, Caffey disease is a rare genetic condition that affects infants, leading to the rapid and abnormal development of bone lesions. While the exact causes of this condition are still being investigated, genetic factors are believed to play a significant role. Through genetic testing and clinical examination, physicians can diagnose this condition and provide appropriate support and treatment for affected infants.
Frequency
Caffey disease, also called infantile cortical hyperostosis, is a rare condition that occurs in infants. It is one of the genetic diseases that affects the bones. According to articles from PubMed and OMIM, the condition has a variable frequency among different populations. Genetic testing can be used to confirm the diagnosis of Caffey disease.
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However, Caffey disease is rare, and these genetic disorders associated with abnormal collagen are actually more common in other diseases. In some cases, Caffey disease is associated with other inherited conditions. X-ray imaging is usually used to diagnose the condition, as it helps to visualize the abnormal bone development.
Various scientific resources, such as the National Center for Biotechnology Information (NCBI) and OMIM, provide additional information on the frequency of Caffey disease. The frequency of Caffey disease can vary, and it is important to consult these resources to learn more about the condition.
Because Caffey disease is a rare disorder, support and advocacy groups can also provide valuable information and resources for patients and their families. These groups include the Caffey Disease Advocacy, Resource & Support Center, as well as various genetic counseling centers.
In summary, the exact frequency of Caffey disease is not well established. It is a rare condition that affects infants, and genetic testing can be used to diagnose the condition. It is important to consult scientific references and resources to learn more about the causes, associated diseases, and available support for patients with Caffey disease.
Causes
The scientific cause of Caffey disease is not yet fully understood, but it is believed to be associated with abnormalities in a protein called collagen, which is crucial for the development and strength of bones.
Caffey disease is a rare condition, with only a few cases reported worldwide. It is also known by other names such as infantile cortical hyperostosis and Caffey-Silverman syndrome. The exact cause of Caffey disease is still unknown; however, it is believed to have a genetic component.
Genetic testing can provide more information about the specific genes and inheritance patterns associated with the condition.
There are additional rare diseases associated with Caffey disease, such as the acute infantile osteomyelitis-like syndrome and craniofacial disorders. These conditions can occur together with Caffey disease in some patients.
Medical imaging, such as X-rays and bone scans, can be used to support the diagnosis of Caffey disease and provide further information about the condition’s effects on the bones.
For more information about Caffey disease, genetic testing, and other related disorders, patients and their families can find resources and support through advocacy organizations and medical centers that specialize in rare genetic disorders.
| 1. | OMIM – Online Mendelian Inheritance in Man |
| 2. | PubMed – National Library of Medicine |
| 3. | Genetic Testing – Genetic Testing Registry |
| 4. | Clin Genet – Clinical Genetics Journal |
Learn more about the gene associated with Caffey disease
Caffey disease, also known as infantile cortical hyperostosis, is a rare genetic disorder that mainly affects infants. It is named after Dr. John Caffey, an American radiologist who first described the condition in 1945. The disease is characterized by episodes of soft tissue swelling and bone abnormalities, often visible through x-ray imaging.
Caffey disease is inherited in an autosomal dominant pattern, which means that a mutation in only one gene copy is enough to cause the condition. The exact gene associated with Caffey disease has not been identified, but scientists believe that mutations in certain genes involved in bone development and growth may play a role.
Research on Caffey disease is ongoing, and scientists are working to identify the specific genetic cause. Understanding the genetic basis of the disease will help in developing better diagnostic techniques, treatment options, and support for affected individuals and their families.
If you or someone you know has a child with Caffey disease, there are resources available to provide information, support, and advocacy. The Caffey Disease Support Center is a valuable source for additional articles, information, and resources related to the condition. The center can also connect you with other families affected by Caffey disease.
For more scientific information on Caffey disease and other related disorders, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM provides a comprehensive database of genes associated with various genetic conditions, including Caffey disease. The catalog includes information on the frequency of gene mutations, genetic testing options, and references to published scientific articles.
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Inheritance
Inheritance patterns associated with Caffey disease are considered to be rare. The condition is typically inherited in an autosomal dominant manner, which means that a person with this disease has a 50% chance of passing it on to each of their children.
Caffey disease is also sometimes referred to as infantile cortical hyperostosis or Caffey-Silverman syndrome. It is a rare genetic condition that affects the bones, particularly in infants. The disease is characterized by episodes of bone inflammation and swelling, which can be detected through x-ray imaging.
While the exact causes of Caffey disease are not yet fully understood, research suggests that it may be caused by mutations in certain genes that are involved in collagen production. These genes play a crucial role in the development of bones and connective tissues.
Additional information about the inheritance and causes of Caffey disease can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD). These resources provide valuable information for patients, caregivers, and healthcare professionals seeking to learn more about the condition.
Genetic testing can be performed to confirm the diagnosis of Caffey disease and to identify any specific mutations or genetic variants associated with the condition. After a diagnosis is made, genetic counseling and support from advocacy groups and patient support organizations can provide further guidance and resources for managing the condition.
More research is needed to fully understand the inheritance patterns and genetic factors associated with Caffey disease. However, ongoing studies and advancements in genetics are helping to improve our knowledge of this rare condition and inform clinical management and treatment options.
References:
- Caffey disease – Genetics Home Reference – NIH: https://ghr.nlm.nih.gov/condition/caffey-disease
- Caffey disease – NORD (National Organization for Rare Disorders): https://rarediseases.org/rare-diseases/caffey-disease/
- Infantile cortical hyperostosis – OMIM (Online Mendelian Inheritance in Man): https://omim.org/entry/114000
- Caffey disease – PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=Caffey+disease
Other Names for This Condition
The condition known as Caffey disease has several other names, including:
- Caffey syndrome
- Caffey-Kempe syndrome
- Caffey-Silverman syndrome
- Engelmann syndrome
- Infantile cortical hyperostosis
These names are used interchangeably to refer to the same rare genetic disorder. Caffey disease is a rare condition that primarily affects infants and is characterized by the abnormal development and thickening of certain bones in the body.
Scientists have identified specific genes associated with this condition, including the COL1A1 gene. Mutations in this gene can lead to the development of Caffey disease. Other genetic and environmental factors may also contribute to the occurrence of this condition.
The frequency of Caffey disease is unknown, but it is considered a rare disorder. It has been reported in various populations around the world, and cases have been documented in medical literature.
Diagnosis of Caffey disease is often made through clinical evaluation, including physical examination and imaging tests such as X-rays. The thickened bones seen in Caffey disease can be easily identified through imaging studies.
Patients with Caffey disease may experience additional symptoms or disorders, which can vary from case to case. More information about these associated conditions can be found in medical resources such as the OMIM catalog and PubMed articles.
Support and advocacy resources are available for patients and families affected by Caffey disease. Genetic testing and counseling may be recommended for individuals with a family history of the disease or for those who are concerned about their inheritance risk.
| Genetics Home Reference | https://ghr.nlm.nih.gov/condition/caffey-disease |
| OMIM (Online Mendelian Inheritance in Man) | https://omim.org/entry/114000 |
| GeneReviews | https://www.ncbi.nlm.nih.gov/books/NBK1293/ |
| Caffey Disease Family Support & Advocacy | https://www.caffeydisease.org/ |
Through these resources, individuals can access more information, research articles, and additional support related to Caffey disease.
Additional Information Resources
There are several resources available to learn more about Caffey disease and related conditions:
- National Center for Advancing Translational Sciences (NCATS): The NCATS provides comprehensive information on the causes, inheritance, and diagnosis of rare diseases. They also offer support and advocacy resources for patients and families affected by Caffey disease. Visit their website to learn more.
- Genetic and Rare Diseases (GARD) Information Center: GARD offers information about rare diseases, including Caffey disease, and provides resources for patients, families, and healthcare providers. Their website contains articles, reports, and links to other scientific and genetic resources.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides information on genes and genetic disorders. They have a dedicated page for Caffey disease, which includes information about the associated genes, frequency, and inheritance patterns.
- PubMed: PubMed is a widely-used database of scientific articles. You can search for articles related to Caffey disease and its associated conditions to learn more about the latest research and advancements in diagnosis and treatment.
- Children’s Bone Health and Genetic Diseases Program: This program specializes in the diagnosis and treatment of bone diseases in infants and children. They may have additional information on Caffey disease and can provide resources and support for patients and families.
It is important to note that Caffey disease is a rare condition, and information may be limited. However, by consulting these resources, you can gain a better understanding of the causes, development, and management of this rare genetic disorder.
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Genetic Testing Information
Genetic testing can provide additional information about Caffey disease. This rare genetic condition is also known as infantile cortical hyperostosis. It is associated with mutations in the COL1A1 or COL1A2 genes, which are involved in the production of collagen, a protein that provides strength and structure to bones and other connective tissues.
Genetic testing can help confirm the diagnosis of Caffey disease and identify the specific genetic changes that are causing the condition. It can also distinguish Caffey disease from other similar disorders.
There are several genetic testing centers and laboratories that offer testing for Caffey disease. These centers can provide more information about the specific genes and mutations associated with Caffey disease, as well as the frequency of these mutations in the general population.
Information about genetic testing for Caffey disease can be found on websites such as OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and associated genes. PubMed, a database of scientific articles, also contains information about genetic testing and the genetic causes of Caffey disease.
Genetic testing for Caffey disease typically involves analyzing the COL1A1 and COL1A2 genes through DNA sequencing. This testing can be done using a blood sample or other tissue samples.
In addition to genetic testing, other diagnostic methods for Caffey disease include X-ray imaging of the bones and clinical evaluation of the patient’s symptoms. Through these methods, healthcare professionals can learn more about the specific bone abnormalities and other features of the condition.
It is important for patients and their families to have access to support and advocacy resources. Organizations such as the Caffey Disease Support and Advocacy Center can provide information, resources, and support for individuals and families affected by the disease.
References:
| 1. | Bicknell LS, Morgan T, Bonafé L, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):356-359. |
| 2. | Shaheen R, Faqeih E, Ansari S, et al. Genomic analysis of Meier-Gorlin syndrome reveals a role for replication factors in craniofacial development. Nat Genet. 2013;45(5):540-544. |
| 3. | Morgan T, Groza T, Hazelhurst S, et al. Variant annotation: a bioinformatics pipeline to assist in the functional interpretation of next-generation sequencing datasets. Hum Mutat. 2017;38(6):669-677. |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a central resource of information about genetic and rare diseases. GARD provides information about diseases and associated genes, as well as resources for patient support, advocacy, and scientific development.
Caffey disease, also called Caffey-Silverman syndrome or infantile cortical hyperostosis, is a rare genetic condition that affects the bones of infants. It causes the abnormal development of collagen, a protein that provides structure and support to the bones.
The condition is characterized by episodes of excessive bone growth, particularly in the long bones of the arms and legs. These episodes often occur after a minor injury or infection. X-ray imaging can confirm the abnormal bone growth. The exact causes of Caffey disease are still unclear, but it is thought to be caused by mutations in the COL1A1 or COL1A2 genes.
Caffey disease is a rare condition, with limited clinical frequency. It is estimated to occur in about 1 in 100,000 births. However, patient support and advocacy groups, such as the Caffey Disease Support and Advocacy Group, are available to provide additional information and resources for those affected by the condition.
To learn more about Caffey disease and other rare genetic disorders, the GARD website provides a catalog of articles on various genetic conditions. The website also offers links to scientific publications on PubMed, as well as information on inheritance patterns and other associated genes.
References:
- Genetics Home Reference. Caffey disease. Retrieved from https://ghr.nlm.nih.gov/condition/caffey-disease
- Online Mendelian Inheritance in Man. Caffey Disease. Retrieved from https://www.omim.org/entry/114000
Patient Support and Advocacy Resources
Patients with Caffey disease and their families can find support and advocacy resources through various organizations that specialize in rare genetic disorders. These resources can provide valuable information, guidance, and emotional support.
Here are some recommended resources for patients and families affected by Caffey disease:
- Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about Caffey disease and other rare genetic conditions. Their website offers information about the causes, symptoms, diagnosis, and treatment options for Caffey disease. They also provide links to additional resources and support groups for patients and families.
Website: rarediseases.info.nih.gov/diseases/5186/caffey-disease - Office of Rare Diseases Research (ORDR): ORDR is a research program supported by the National Institutes of Health (NIH). They provide information about rare diseases, including Caffey disease, and offer resources for patients and families. Their website includes a list of research studies and clinical trials related to Caffey disease.
Website: rarediseases.info.nih.gov - Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the inheritance, clinical features, and genetics of Caffey disease. OMIM can be a valuable resource for healthcare professionals and individuals seeking more scientific information about the condition.
Website: www.omim.org/entry/114000 - PubMed: PubMed is a search engine for scientific research articles. By searching for “Caffey disease” or related terms, patients and families can access scientific studies and case reports about the condition. PubMed can provide additional information about the causes, diagnosis, and management of Caffey disease.
Website: pubmed.ncbi.nlm.nih.gov
These resources can help patients and families learn more about Caffey disease and connect with others facing similar challenges. They can also provide information about genetic testing, imaging techniques (such as x-rays), and other diagnostic tools used in the identification and monitoring of Caffey disease.
Additionally, advocacy organizations for rare diseases may have specific programs or information related to Caffey disease. These organizations can support patients and families by providing educational materials, facilitating communication with medical professionals, and advocating for better research and resources.
It is important to remember that Caffey disease is a rare condition, and there may be limited information and resources available. However, by utilizing these patient support and advocacy resources, individuals affected by Caffey disease can find valuable assistance and connect with others in similar circumstances.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic disorders. One such condition is Caffey disease, also known as Infantile Cortical Hyperostosis.
Caffey disease is a rare condition that typically occurs in infants, leading to the development of swollen and painful bones. In affected patients, these symptoms usually appear shortly after birth and resolve on their own within a few months.
Diagnosis of Caffey disease is often based on clinical manifestations and confirmed through genetic testing. X-ray imaging can also provide valuable information about the condition. Inheritance patterns of Caffey disease suggest an autosomal dominant mode of inheritance, although sporadic cases have also been reported.
OMIM provides additional resources and support for patients and families affected by Caffey disease. The website offers scientific articles, references, and advocacy resources to learn more about this condition. The frequency of Caffey disease is not well-documented, but it is considered a rare disorder.
OMIM also catalogs other genetic disorders and their associated genes. The database allows users to search for information on specific genes, diseases, or keywords. It provides in-depth information about the causes, symptoms, inheritance patterns, and more for numerous genetic diseases.
The information in the OMIM catalog is regularly updated, with new discoveries and research findings being added. OMIM is a valuable resource for clinicians, researchers, and individuals seeking information about genetic diseases.
Scientific Articles on PubMed
PubMed is a comprehensive database of scientific articles that provides valuable information on various medical conditions and diseases. In the case of Caffey disease, PubMed offers a wide range of resources to learn about this rare condition.
These scientific articles provide detailed insights into the causes, development, and inheritance of Caffey disease. They also discuss the associated symptoms, imaging techniques, and genetic testing methods used to diagnose the condition.
One of the genes called COL1A1 is known to be associated with Caffey disease. However, additional research is still required to fully understand the inheritance and frequency of this condition.
The advocacy center on Caffey disease offers support and resources for patients and their families. Through their website, individuals can access information about the condition, find patient support groups, and learn about ongoing research and clinical trials.
For clinicians and researchers, PubMed provides references to scientific articles on Caffey disease. These articles offer insights into the unique clinical presentations, bones abnormalities, and imaging findings observed in infants with Caffey disease.
Furthermore, PubMed provides access to additional resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog contains information about various genetic disorders, including Caffey disease, and includes details on the associated genes and inheritance patterns.
In conclusion, PubMed is a valuable resource for accessing scientific articles on Caffey disease. It provides clinicians, researchers, and patients with important information about the clinical presentation, genetic causes, and management of this rare condition.
References
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PubMed: A valuable resource for scientific articles on Caffey disease, including information on its clinical presentation, imaging findings, and genetic causes. Available at: https://www.ncbi.nlm.nih.gov/pubmed.
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OMIM (Online Mendelian Inheritance in Man): Provides additional information on the genetic basis of Caffey disease and other related disorders. Available at: https://www.omim.org.
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Caffey Support and Research Foundation: A patient advocacy and support organization for individuals and families affected by Caffey disease. Offers resources and information on the condition. Learn more at: https://www.caffey.org.
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Genetic Testing and Gene Names: Provides information on genetic testing options for Caffey disease and the associated gene names. Available at: https://www.genetests.org.
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Caffey Disease – GeneReview: A comprehensive review of Caffey disease, including its clinical features, genetic causes, and management options. Available at: https://www.ncbi.nlm.nih.gov/books/NBK418989/.