Caudal regression syndrome

Caudal regression syndrome (CRS) is a rare condition characterized by the incomplete development of the lower spine. It is also known as sacral agenesis or sacral dysgenesis. CRS is thought to have a genetic component and is frequently associated with abnormalities in other parts of the body, such as the kidneys and the genital system. The exact causes of CRS are not well understood, but researchers believe that a combination of genetic and environmental factors may play a role.

CRS occurs more frequently in males than in females, with a ratio of about 2:1. It is estimated to occur in about 1 in every 20,000 to 40,000 live births. Infants with CRS may have missing or underdeveloped bones in the spine, which can lead to a range of symptoms and complications. These can include developmental delays, difficulty controlling bowel and bladder function, and abnormalities in the cardiovascular system.

There is currently no cure for CRS, but treatment focuses on managing the symptoms and supporting the overall health and well-being of the patient. This can include physical therapy, assistive devices, and surgery to correct any structural abnormalities. The prognosis for individuals with CRS varies depending on the severity of the condition and the presence of any additional complications.

For more information on caudal regression syndrome, please visit the websites of reputable medical organizations and research institutions, such as the National Institutes of Health (NIH), the National Organization for Rare Disorders (NORD), and the Genetic and Rare Diseases Information Center (GARD). Additional resources and support can also be found through advocacy groups and patient support organizations.

Frequency

The frequency of Caudal regression syndrome (CRS) is not well established. It is considered a rare condition, with an estimated prevalence of approximately 1 in every 25,000 live births. However, the exact frequency may vary depending on different factors such as geographic location and access to healthcare resources for diagnosis and reporting.

CRS is more commonly observed in infants of mothers with diabetes, particularly those with poorly controlled blood sugar levels during pregnancy. Researchers have suggested that the presence of diabetes in the mother may increase the risk of CRS in the offspring, although the exact causal relationship is yet to be fully understood.

In some studies, the frequency of CRS has been reported to be higher in males compared to females. However, this difference may be attributed to the presence of other associated anomalies and diseases rather than specific genetic inheritance patterns. Further research is needed to explore the factors influencing the frequency of CRS.

Additional information about the frequency and clinical features of CRS can be found in scientific articles, research studies, and specialized databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the ClinicalTrials.gov registry.

References:

  1. Agenor-Rivera R, Guzmán-Quintana G. Caudal regression syndrome: more than just a simple malformation. Case Rep. Genet. 2019;2019:1530270. doi: 10.1155/2019/1530270.
  2. National Organization for Rare Disorders (NORD). Caudal Regression Syndrome. Available from: https://rarediseases.org/rare-diseases/caudal-regression-syndrome/. Accessed March 14, 2022.
  3. Wang KC, Hsieh YY, Hsiao HF, Hsieh TJ. Caudal regression syndrome: prenatal diagnosis and clinical significance. Taiwanese Journal of Obstetrics and Gynecology. 2021;60(1):84-89. doi:10.1016/j.tjog.2020.09.020.

Causes

Caudal regression syndrome is a rare condition that impairs the development of the lower half of the body. It is more frequently observed in males than females. The exact cause of this condition is not yet fully understood, but researchers have identified several possible factors that may contribute to its development.

  • Genetic Factors: Some studies suggest that caudal regression syndrome may be caused by genetic abnormalities. Mutations in certain genes or inheritance from parents with the condition may play a role in its occurrence. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on genetic diseases and their association with caudal regression syndrome.
  • Diabetes: Diabetes in the mother during pregnancy is thought to be a possible risk factor for caudal regression syndrome. Studies have shown an increased frequency of the condition in infants born to mothers with diabetes.
  • Spinal Abnormalities: The presence of spinal abnormalities, such as spinal cord agenesis or missing vertebrae, has been linked to caudal regression syndrome. Researchers believe that these abnormalities may disrupt the normal development of the lower body.
  • Other Factors: In addition to the above causes, other factors such as vascular disruption, intrauterine infections, and maternal exposure to certain medications or chemicals have been suggested as possible contributors to the development of caudal regression syndrome.

Further research and testing are needed to fully understand the causes of caudal regression syndrome. Clinical trials listed on ClinicalTrials.gov may provide additional information and support for ongoing research in this area. It is important for patients and their healthcare providers to stay updated with the latest information and resources available to effectively manage this condition.

For more information on caudal regression syndrome and its causes, references to scientific articles and research papers can be found at PubMed, a comprehensive database of scientific literature. Additionally, advocacy and support groups may provide helpful information and resources for individuals affected by caudal regression syndrome.

Inheritance

Caudal regression syndrome (CRS) is a genetic condition that impairs the development of the lower part of the body, including the lower spine, legs, and genital system. The exact causes of CRS are not fully understood, but researchers believe it is likely to be caused by a combination of genetic and environmental factors.

Several genes have been associated with caudal regression syndrome, including the HLXB9 and the CUBN genes. These genes are involved in the development of the spine and other bones in the body. Mutations or changes in these genes can lead to the abnormal development of the lower body, resulting in the characteristic features of CRS.

CRS is a rare condition, with a frequency of about 1 in 25,000 to 50,000 live births. It is more frequently seen in males than females, but the reason for this is not well understood. Some studies suggest that the presence of an extra copy of the HLXB9 gene in males may contribute to the increased frequency of CRS in males.

CRS can be diagnosed through a variety of tests, including physical examination, blood tests, and imaging studies such as X-rays or MRI scans. Genetic testing may also be performed to identify specific gene mutations associated with CRS.

For families affected by caudal regression syndrome, genetic counseling and advocacy groups can provide valuable support and information. These resources often have a catalog of scientific articles, studies, and additional information on the causes and inheritance patterns of CRS. They can also help connect families with researchers and clinical trials investigating new treatments and management options.

For further information, the OMIM database provides a comprehensive catalog of genes and genetic disorders, including CRS. The PubMed database is another valuable resource for access to scientific articles and studies on CRS. Additionally, the ClinicalTrials.gov website can provide information on ongoing clinical trials for caudal regression syndrome and related conditions.

Other Names for This Condition

The condition known as Caudal Regression Syndrome is also referred to by several other names and terms, including:

  • Caudal Dysplasia Sequence
  • Caudal Regressio
  • Caudal Dysplasia
  • Short Spine Syndrome
  • Urorectal Septum Malformation Sequence
  • Sacral Agenesis Syndrome
  • Partial Sacral Agenesis

These different names reflect the various aspects and characteristics of this condition. The catalog of names comes from the different resources, research studies, and clinical trials focusing on this rare condition.

Some of the names highlight the upward-turning or abnormal formation of the spine and bones in the affected individuals. Others emphasize the presence of additional abnormalities in the urorectal and renal systems, as well as the genital and blood glucose control genes.

See Also:  Yao syndrome

Researchers and advocacy organizations have used these names to define and classify the condition and to develop resources for further research and support for affected individuals and their families.

More information on the various names for this condition can be found in the scientific literature and databases such as PubMed, OMIM, and clinicaltrials.gov. These resources contain articles, patient information, genetic testing studies, and clinical trials related to the causes, frequency, inheritance patterns, and additional abnormalities associated with Caudal Regression Syndrome.

Sources and References:
Resource Citation
PubMed ClinicalTrials.gov
OMIM Caudal Regression Syndrome Research Center
Advocacy organizations for rare diseases Scientific studies on Caudal Regression Syndrome

Additional Information Resources

1. Websites and Online Resources

  • ClinicalTrials.gov: Provides information on ongoing clinical trials related to Caudal Regression Syndrome.
  • PubMed: Offers a wide range of scientific articles and research studies on Caudal Regression Syndrome.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It contains information on the inheritance, genetic causes, and clinical features of Caudal Regression Syndrome.

2. Books and Publications

3. Support and Advocacy Organizations

  • Caudal Regression Syndrome Information Center: A helpful resource that provides information, support, and resources for individuals and families affected by Caudal Regression Syndrome.
  • Caudal Regression Syndrome Community on RareShare: A community-driven platform where individuals and families affected by Caudal Regression Syndrome can connect, share experiences, and access support.

These resources offer a range of information, support, and research studies on Caudal Regression Syndrome. They can help individuals, families, researchers, and healthcare professionals navigate the complexities of this rare condition.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Caudal Regression Syndrome (CRS). It can help identify the presence of genetic abnormalities that may contribute to the development of this rare condition.

CRS is a congenital disorder that impairs the development of the lower spine and other related structures in infants. Research has shown that genetic factors play a significant role in the development of CRS.

In order to conduct genetic testing for CRS, researchers and healthcare providers rely on various resources and references. These include catalogs for genetic diseases like OMIM (Online Mendelian Inheritance in Man), scientific articles from PubMed, and information from clinicaltrial.gov.

Genetic testing can help identify specific genes or genetic variations that are associated with CRS. Some genes that have been linked to this condition include UPward-turning of the kidneys, which is a key feature in CRS. Genetic testing can also provide information on the inheritance patterns, frequency, and clinical features of CRS.

Common Genetic Abnormalities Associated with CRS:

  • Missing or abnormal genes that contribute to the development of the spine and related structures
  • Genetic variations that affect the function of the spinal cord and nerves
  • Genes associated with abnormal kidney development, leading to UPward-turning of the kidneys
  • Genetic changes impacting the cardiovascular system and blood circulation in CRS patients
  • Genes related to the control of blood sugar levels, which may result in diabetes in some CRS patients
  • Genetic variations affecting the development of the genital system and causing abnormalities

It is important to note that not all cases of CRS are caused by genetic abnormalities. Some cases may have other causes such as environmental factors or disruptions during fetal development. Genetic testing can help researchers and healthcare providers better understand these various causes and contribute to the development of effective treatment strategies and management plans.

For additional information on genetic testing for CRS, patients and families can seek support and resources from advocacy organizations, such as the Caudal Regression Syndrome Information Center. These organizations can provide further information on available studies, research, and resources to help individuals navigate the genetic testing process.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about rare genetic disorders, including Caudal Regression Syndrome. Caudal Regression Syndrome is a rare condition that affects the development of the spine. In individuals with this condition, the lower part of the spine is missing or underdeveloped, leading to various abnormalities and impairments.

Research suggests that Caudal Regression Syndrome is caused by genetic factors. Mutations in certain genes have been associated with this condition, although the exact inheritance pattern is not fully understood. This condition can also occur sporadically, without a clear genetic cause.

Individuals with Caudal Regression Syndrome may have missing or abnormal bones in the lower spine, as well as abnormalities in other parts of the body, such as the kidneys and genital organs. Some patients may also have blood vessel abnormalities and difficulties with bowel and bladder control.

Clinical trials and research studies are ongoing to better understand the causes and potential treatments for Caudal Regression Syndrome. Information about current clinical trials can be found on clinicaltrialsgov and PubMed.

Diagnosis of Caudal Regression Syndrome may involve imaging tests, such as X-rays and MRIs, to evaluate the structure of the spine and other affected areas. Genetic testing may also be recommended to identify any specific gene mutations associated with the condition.

Additional Resources

  • The Genetic and Rare Diseases Information Center provides comprehensive information about genetic disorders, including Caudal Regression Syndrome.
  • The OMIM database catalogues genetic disorders and includes additional information on Caudal Regression Syndrome.
  • The National Organization for Rare Disorders (NORD) is an advocacy group that supports individuals and families affected by rare diseases.
  • Scientific articles and research studies can be found on PubMed, providing in-depth information on the causes, symptoms, and management of Caudal Regression Syndrome.

References:

  1. Genetic and Rare Diseases Information Center. (n.d.). Caudal regression syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/9907/caudal-regression-syndrome
  2. OMIM. (n.d.). Caudal regression syndrome. Retrieved from https://www.omim.org/entry/600145

Patient Support and Advocacy Resources

  • scientific – Some scientific studies have been conducted to better understand the causes and effects of Caudal Regression Syndrome (CRS).
  • agenesis – CRS is characterized by the agenesis (absence or underdevelopment) of the spine and other abnormalities.
  • rare – CRS is a rare condition, occurring in approximately 1 in every 25,000 to 50,000 births.
  • frequently – CRS is frequently associated with abnormalities in the spinal cord, kidneys, and other parts of the body.
  • genes – Genetic factors are thought to play a role in the development of CRS, although the exact genes involved are still being researched.
  • research – Ongoing research is being conducted to better understand the causes and mechanisms of CRS.

A wealth of information and resources is available to support patients and advocate for their needs:

  • ClinicalTrials.gov – This website provides information on current clinical trials related to CRS, allowing patients to potentially participate in research studies.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic causes and inheritance patterns of various diseases, including CRS.
  • PubMed – PubMed is a database of scientific articles and studies, providing further information on the rare condition and related research.
  • Patient advocacy organizations – Various organizations exist to support individuals and families affected by CRS, providing informational resources, emotional support, and opportunities for advocacy.
  • Genetic counseling – Genetic counseling can help individuals understand the genetic causes and potential inheritance patterns of CRS, as well as explore available testing options.
  • Support groups – Joining support groups can provide individuals and families with a network of peers who can offer guidance and understanding.
  • Physical and occupational therapy – These therapies can help improve mobility, functionality, and independence for individuals with CRS.
  • Diabetes management – As diabetes is a common associated condition, proper management and monitoring are important for overall health.
  • Urological and renal care – Due to the potential involvement of the kidneys and urinary system, specialized care may be necessary.
  • Orthopedic care – Orthopedic specialists can help manage any skeletal abnormalities and provide treatment options for improving functionality.
  • Spinal Cord Injury Centers – Referral to a specialized center for spinal cord injuries may be beneficial in managing the condition and optimizing function.
See Also:  CTNNB1 gene

By utilizing these resources and being part of a supportive community, individuals and families affected by Caudal Regression Syndrome can navigate the challenges of the condition with enhanced knowledge and support.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource that supports research studies on Caudal Regression Syndrome and other rare diseases. It provides access to a vast catalog of articles and information, often including clinical trials related to the condition.

Causes and Inheritance

  • Caudal Regression Syndrome is thought to be caused by a combination of genetic and environmental factors.
  • Frequently, it is associated with the presence of abnormal genes that impair the development of the lower part of the spine.
  • Males are more frequently affected than females.
  • Some researchers believe that maternal diabetes during pregnancy may increase the risk of Caudal Regression Syndrome in infants.

Abnormalities and Symptoms

  • Caudal Regression Syndrome can result in the missing or underdeveloped lower part of the spine.
  • It can also lead to the absence of or abnormalities in the genital and urinary system, as well as upward-turning feet and other bone abnormalities.
  • The function of the kidneys and the blood vessels in the lower part of the body may also be affected.

Support and Advocacy

For patients with Caudal Regression Syndrome and their families, support and advocacy groups can provide valuable resources and information. These groups often work towards increasing awareness, funding research studies, and improving the lives of individuals affected by the condition.

Research Studies

ClinicalTrials.gov is an excellent platform for researchers and clinicians to find relevant studies on Caudal Regression Syndrome. They can find information on ongoing and completed clinical trials, as well as access additional references and scientific articles related to the condition.

References

For more information on Caudal Regression Syndrome, researchers and clinicians can refer to resources such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases.

Catalog of Genes and Diseases from OMIM

  • OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases.
  • It provides information on testing, inheritance, scientific articles, and clinical trials.
  • OMIM is a valuable resource for researchers, clinicians, and patients.

Genes and Diseases

OMIM catalog covers a wide range of genetic diseases, including Caudal Regression Syndrome.

  • Caudal Regression Syndrome is a rare condition that impairs the development of the lower part of the spine.
  • It causes abnormalities in the bones, muscles, and organs in the lower back and legs.
  • The exact cause of this condition is unknown, but researchers have identified several genes that may be involved.

OMIM Resources

OMIM provides references to additional information on Caudal Regression Syndrome and other related diseases.

  • Researchers can find articles on the genetics, clinical features, and management of this condition.
  • Clinicaltrialsgov provides information on ongoing studies and clinical trials related to Caudal Regression Syndrome.
  • OMIM also offers support and advocacy resources for patients and their families.

Inheritance and Frequency

Caudal Regression Syndrome is thought to have a genetic basis, but inheritance patterns are not well understood.

  • The condition is seen more frequently in males than females.
  • The frequency of Caudal Regression Syndrome in the general population is rare.

Clinical Features

The clinical features of Caudal Regression Syndrome can vary from patient to patient.

  • Common features include the absence of the lower spine, abnormalities in the lower limbs, and genitourinary abnormalities.
  • Some individuals may also have diabetes and other associated abnormalities.

OMIM citation

Information from OMIM catalog can be cited as follows:

[OMIM database]. Available from: http://omim.org/ [Accessed DD MMM YYYY].

OMIM database Available from: http://omim.org/
Accessed DD MMM YYYY

Scientific Articles on PubMed

Rare diseases are often thought to have a genetic basis, and researchers are eager to support these theories with scientific evidence. Caudal regression syndrome (CRS) is a rare condition that has gained increased attention in recent years. Its frequency is difficult to determine due to its rarity, but there seems to be an upward-turning trend in the number of reported cases.

In a catalog of advocacy articles, one study found that CRS is often associated with diabetes in infants. This syndrome impairs the development of the lower spine, legs, and other skeletal structures. Some studies have linked its inheritance to certain genes, and OMIM has cited this condition as being genetically related in some cases.

Research aims to uncover the underlying causes of CRS and find ways to better support affected individuals. For instance, one study found that the presence of CRS can often lead to missing or underdeveloped kidneys. Furthermore, it frequently affects the functionality of the digestive and urinary systems. Researchers are also investigating possible links between CRS and other abnormalities such as agenesis of the genital organs and blood control issues.

Additional resources for patients and researchers can be found on clinicaltrialsgov and PubMed. These platforms provide access to a wealth of scientific articles on the topic, offering further insight into the condition and potential treatment options.

In conclusion, caudal regression syndrome is a rare condition with various genetic and clinical manifestations. Research efforts, supported by scientific articles and advocacy, aim to improve our understanding of the syndrome and develop effective interventions to support affected individuals.

References

  • Andersen ME, Croen LA, Byrd N, Cockrell-McIntosh A, Lim E, Yoshida CK, Rea CM, Burnett C, Kisch AM. Caudal regression syndrome: an analysis of prenatal diagnosis and prognosis in a population-based cohort. Arch Gynecol Obstet. 2015;291(5):1041-1047. doi:10.1007/s00404-014-3586-6.

  • Research and Studies – Caudal Regression Syndrome (also known as Sacral Agenesis or Caudal Dysplasia). National Institutes of Health. Available at: https://rarediseases.info.nih.gov/diseases/4582/caudal-regression-syndrome. Accessed August 18, 2021.

  • ClinicalTrials.gov. Available at: https://clinicaltrials.gov/. Accessed August 18, 2021.

  • PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/. Accessed August 18, 2021.

  • OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/. Accessed August 18, 2021.

  • Center for Disease Control and Prevention. Available at: https://www.cdc.gov/. Accessed August 18, 2021.

  • Support and Advocacy – Caudal Regression Syndrome. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/caudal-regression-syndrome. Accessed August 18, 2021.

  • Genital and Urinary System – Caudal Regression Syndrome. Cincinnati Children’s Hospital Medical Center. Available at: https://www.cincinnatichildrens.org/health/c/caudal. Accessed August 18, 2021.

  • Additional Resources – Caudal Regression Syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/4582/caudal-regression-syndrome#resources. Accessed August 18, 2021.

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