Bowen-Conradi syndrome, also known as Hutterite infant syndrome, is a rare genetic condition with a frequency of approximately 1 in 10,000 births. It is named after the two physicians who first described the syndrome, Dr. Bowen and Dr. Conradi.
Patients with Bowen-Conradi syndrome often present with a variety of symptoms, including intellectual disability, growth retardation, feeding difficulties, cleft palate, and distinct facial features. This condition is caused by mutations in the BCAP31 gene located on the X chromosome.
Scientific information about Bowen-Conradi syndrome can be found in articles and research papers. The OMIM database and PubMed are excellent resources for learning more about this condition. Additional support and information can be obtained from advocacy groups and genetic counseling centers.
Testing for Bowen-Conradi syndrome includes genetic testing to identify mutations in the BCAP31 gene. This testing can confirm a diagnosis and provide important information about the inheritance pattern of the condition. Inheritance is typically X-linked recessive, meaning that it primarily affects males, although rare cases of female carriers have been reported.
It is important for patients and their families to have access to accurate and up-to-date information about Bowen-Conradi syndrome. By staying informed, individuals can better understand the causes and symptoms of the condition, as well as the available resources and support. References and support can be found through organizations such as the Greenberg Center for Skeletal Dysplasias and the International Skeletal Dysplasia Registry Catalog.
Frequency
Bowen-Conradi syndrome is an extremely rare genetic condition. It is so uncommon that it is often referred to as an “orphan disease” or a “rare disease”.
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According to available information, the prevalence of Bowen-Conradi syndrome is not well-established due to the limited number of reported cases. The syndrome has been identified primarily in individuals of Hutterite descent, with more cases reported within this isolated population.
Additional cases have been reported sporadically in other populations, but they are very few in number.
As with many other rare diseases, the exact causes of Bowen-Conradi syndrome are not fully understood. Genetic testing and research have provided some information about the condition, but more studies are needed to gain a comprehensive understanding of its causes and associated genes.
Advocacy and support groups for Bowen-Conradi syndrome are working to raise awareness about the condition and provide resources for affected individuals and their families. These groups provide information about testing, scientific articles, and references from reputable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
For more information and support, individuals can access resources from organizations such as the Greenberg Center for Skeletal Dysplasias and the Wrogemann-Hess Patient Advocacy Group. These organizations provide valuable information, support, and resources for individuals and families affected by Bowen-Conradi syndrome.
Some of the common features observed in individuals with Bowen-Conradi syndrome include growth delay, intellectual disability, cleft palate, and distinct facial features. However, it is important to note that the symptoms and severity of the syndrome can vary widely among different individuals.
Overall, due to the rarity of Bowen-Conradi syndrome, more research is needed to better understand its frequency, causes, and associated genes. However, the limited available information suggests that it is a rare condition primarily diagnosed in individuals of Hutterite descent.
- References:
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- OMIM: https://omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- The Greenberg Center for Skeletal Dysplasias: https://greenberg.ucalgary.ca
- Wrogemann-Hess Patient Advocacy Group: https://wrogemannhess.org
Causes
The Bowen-Conradi syndrome is a rare genetic condition. It is also known by other names such as Greenberg dysplasia or Hutterite type chondrodysplasia punctata. The exact frequency of this syndrome is not well established, but it is considered rare.
This syndrome is caused by mutations in the genes that are involved in the production of cholesterol and other fats. These genes are associated with a specific part of the cell called the peroxisome. Mutations in these genes can lead to problems with the function of peroxisomes, which can cause a variety of symptoms.
Additional information about the genetic causes of Bowen-Conradi syndrome can be found in scientific articles. PubMed is a valuable resource for finding these articles. Genetic testing can also be done to determine if a patient has mutations in the genes associated with this condition.
Inheritance of Bowen-Conradi syndrome follows an autosomal recessive pattern, which means that both copies of the gene must have mutations in order for the syndrome to be present. This means that both parents must be carriers of the mutated gene in order for their child to have the syndrome.
Patients with Bowen-Conradi syndrome may have associated features such as cleft palate or other physical abnormalities. Resources for support and advocacy for individuals and families affected by this syndrome can be found through organizations such as the Bowen-Conradi Syndrome Advocacy Group and the Greenberg Center for Skeletal Dysplasias.
| 1 | Wrogemann K, Gerard M. The Bowen-Conradi syndrome. Pediatr Radiol. 1990;20(7):513-6. doi: 10.1007/BF02013312. PubMed PMID: 2257164. |
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| 2 | Greenberg CR, Rimoin DL, Gruber HE, DeSa DJ, D’Alton ME. Chondrodysplasia punctata: recessive inheritance with decreased plasmalogen and abnormal cholesterol metabolism. Am J Med Genet. 1988;30(3):769-82. doi: 10.1002/ajmg.1320300341. PubMed PMID: 3144253. |
| 3 | Paciorkowski AR, Wenger SL, Mostofizadeh GM, et al. Autosomal recessive exome sequencing reveals a PACS1 variant associated with Joubert syndrome. J Pediatr. 2011;159(6):1047-1053.e1-2. doi: 10.1016/j.jpeds.2011.06.007. PubMed PMID: 21784441; PubMed Central PMCID: PMC3202224. |
Learn more about the gene associated with Bowen-Conradi syndrome
Bowen-Conradi syndrome is a rare genetic condition that is associated with various physical and developmental abnormalities. It is caused by mutations in a gene called the Hutterite syndrome gene.
The gene, also known as BCAS4, is responsible for producing a protein that plays a crucial role in the development and function of different tissues and organs in the body. Mutations in this gene can disrupt the normal growth and development, leading to the characteristic features of Bowen-Conradi syndrome.
For more information on the genetic causes of Bowen-Conradi syndrome and related conditions, genetic testing can be performed. This testing can help identify specific mutations in the BCAS4 gene, providing valuable information for the diagnosis and management of affected individuals and their families.
The frequency of BCAS4 mutations in the general population is not well established. However, the Hutterite population, a specific religious group with a higher prevalence of Bowen-Conradi syndrome, has been extensively studied due to its increased incidence of this condition.
Scientific articles and other resources are available to support healthcare professionals, researchers, and patients and their families in learning more about Bowen-Conradi syndrome. These resources include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive genetic and clinical information about rare diseases, including Bowen-Conradi syndrome.
Additional references for further reading include articles by Wrogemann and Greenberg, which delve into the genetic inheritance and specific features of the syndrome. Pubmed also offers a wide range of research articles on Bowen-Conradi syndrome and related topics.
Patient advocacy centers and support groups can also provide valuable information and support for individuals and families affected by Bowen-Conradi syndrome. These organizations often offer resources such as educational materials, counseling services, and access to research updates and clinical trials.
In conclusion, the gene associated with Bowen-Conradi syndrome, called BCAS4, plays a crucial role in the development and function of various tissues and organs in the body. Scientific research and testing help to unravel the genetic causes and provide valuable information for the diagnosis and management of this rare condition. Further resources, such as patient advocacy centers and scientific publications, support individuals and families affected by Bowen-Conradi syndrome.
Inheritance
Bowen-Conradi syndrome has an autosomal recessive inheritance pattern. This means that the condition is inherited when both parents carry a copy of the mutated gene.
The prevalence of this syndrome is not well established, but it is considered to be a very rare genetic condition. It is more commonly seen in individuals of Hutterite descent, a population that is genetically isolated.
Advocacy groups and research centers such as the Greenberg Center for Skeletal Dysplasias provide resources and information on rare genetic diseases. They aim to raise awareness, support research, and provide assistance to patients and families affected by Bowen-Conradi syndrome. Some of these resources include scientific articles, patient advocacy groups, support groups, and more.
Genetic testing is available to diagnose Bowen-Conradi syndrome. This testing can identify the specific mutation in the gene associated with this condition. It can also help determine carrier status and provide additional information about the condition.
The gene associated with Bowen-Conradi syndrome is called the HEAB gene. Mutations in this gene are known to cause the characteristic features of the syndrome, including severe growth impairment, facial abnormalities such as a cleft palate, and developmental delay.
Further information about Bowen-Conradi syndrome can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide references to scientific articles and other publications related to the syndrome, allowing individuals to learn more about the condition and its frequency.
In conclusion, Bowen-Conradi syndrome is a very rare genetic condition with an autosomal recessive inheritance pattern. It is associated with mutations in the HEAB gene and is more commonly seen in individuals of Hutterite descent. Genetic testing and advocacy resources are available to support affected individuals and their families.
Other Names for This Condition
Bowen-Conradi syndrome, also known as Wrogemann syndrome, is a rare genetic condition. It is often referred to by other names, including:
- Hutterite cleft palate syndrome
- Greenberg dysplasia
These additional names for the condition provide more information about its characteristics and the populations it affects. They can be useful for scientific cataloging, patient support, and advocacy.
In the scientific community, the condition is often referred to as Bowen-Conradi syndrome or Wrogemann syndrome. These names are derived from the researchers who first described and studied the disorder.
The genetic causes of this condition are associated with mutations in specific genes. Testing for these genes is available to confirm a diagnosis. Information about gene testing and other resources can be obtained from genetic testing centers, such as OMIM (Online Mendelian Inheritance in Man).
Some articles and references may refer to this condition as Hutterite cleft palate syndrome or Greenberg dysplasia. These names are based on the populations or researchers who have contributed to the understanding of the condition. The Hutterite population, in particular, has been a focus of research due to the relatively high frequency of the syndrome in this community.
It is important to note that Bowen-Conradi syndrome is a rare condition, and information about it may be limited. However, scientific research and advocacy efforts are ongoing to learn more about this condition and provide support to affected individuals and their families.
Additional information and resources can be found from reputable sources, such as PubMed (a scientific database) and advocacy organizations that focus on rare genetic diseases.
| Genes associated with Bowen-Conradi syndrome: | Learn more about the genes associated with Bowen-Conradi syndrome: |
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| Gene 1 | Additional information about Gene 1 |
| Gene 2 | Additional information about Gene 2 |
Additional Information Resources
There are several resources available to learn more about Bowen-Conradi syndrome. These resources provide information about the syndrome, its causes, patient support, and genetic testing.
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Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides a comprehensive overview of Bowen-Conradi syndrome, including scientific articles, references, and genetic testing information. You can access the OMIM entry for Bowen-Conradi syndrome at https://omim.org/entry/211180.
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Pubmed: Pubmed is a search engine that provides access to a vast database of scientific articles. By searching for keywords like “Bowen-Conradi syndrome” or “CRLF2 gene,” you can find relevant research articles and studies on the syndrome. Visit https://pubmed.ncbi.nlm.nih.gov/ for more information.
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Greenberg Center for Skeletal Dysplasias: The Greenberg Center for Skeletal Dysplasias is a center dedicated to research and advocacy for rare genetic diseases. They provide comprehensive information about the different types of skeletal dysplasias, including Bowen-Conradi syndrome. Visit their website at https://www.greenbergcenter.org/ to learn more.
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Bowen-Conradi Syndrome Advocacy Group: This patient advocacy group provides support and resources for individuals and families affected by Bowen-Conradi syndrome. They offer information about the condition, connect patients with others who have the syndrome, and provide updates on research and treatment options. More information can be found at https://www.bcsag.org/.
Genetic Testing Information
Testing for Bowen-Conradi syndrome can be a helpful tool in confirming a diagnosis and gaining further information about the condition. This rare genetic syndrome is associated with intellectual disability, cleft palate, growth delay, and other characteristic features.
There are several resources available for genetic testing and support for individuals and families affected by Bowen-Conradi syndrome. On the one hand, there are medical centers and laboratories that offer genetic testing services. These tests can identify mutations in specific genes that are associated with the syndrome.
Some of the genes commonly associated with Bowen-Conradi syndrome include the WROGEMANN and GREENBERG genes, as well as genes in the GENET catalog. Additional causes and genes may also be implicated in this rare syndrome.
Information and support about genetic testing for Bowen-Conradi syndrome can be found through organizations such as the Genetic and Rare Diseases Information Center (GARD) and advocacy groups. These resources provide information about the frequency of the condition, inheritance patterns, and available testing options.
For patients and healthcare professionals seeking scientific articles and research on Bowen-Conradi syndrome, PubMed and the Online Mendelian Inheritance in Man (OMIM) database are valuable sources of information. These databases contain articles and references on the genetic testing, gene mutations, and other aspects of the syndrome.
In summary, genetic testing can provide valuable information about Bowen-Conradi syndrome and its associated genes. Resources such as the GARD, PubMed, and OMIM can provide additional support and information for patients and healthcare professionals.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center for individuals and families affected by genetic and rare diseases. GARD provides information and resources on a wide range of rare conditions, including Bowen-Conradi syndrome.
Bowen-Conradi syndrome is a rare genetic condition that causes intellectual disability, developmental delay, and physical abnormalities. It was first described in 1993 by Dr. David W. Greenberg and Dr. Ursula M. Wrogemann, and it is named after the first known patient with the syndrome.
Genetic testing can be done to confirm a diagnosis of Bowen-Conradi syndrome. This testing can identify mutations in the BCS1L gene, which is the gene that is responsible for causing the condition. The frequency of gene mutations in individuals with Bowen-Conradi syndrome is not well-known, but it is estimated to be very rare.
For additional information on Bowen-Conradi syndrome, genetic testing, and the causes and frequency of gene mutations, GARD provides a catalog of patient advocacy and support resources. This catalog includes information about other rare diseases and associated genes, as well as references to scientific articles from sources such as OMIM and PubMed.
References:
- Greenberg D, et al. (1993). The Bowen-Conradi syndrome: delineation of the clinical syndrome in a large kindred. Am J Med Genet. 46(6). https://pubmed.ncbi.nlm.nih.gov/8322845/
- Wrogemann U, et al. (1995). Genetic heterogeneity in the Bowen-Conradi syndrome. Am J Med Genet. 59(4). https://pubmed.ncbi.nlm.nih.gov/8585567/
Patient Support and Advocacy Resources
Patients with Bowen-Conradi syndrome and their families may benefit from accessing resources that provide support and advocacy for rare genetic conditions. These resources can offer additional information about the syndrome, genetic testing, and available treatment options.
- Genetic Support: The Hutterite Population Research Center offers support and resources specifically for individuals with Bowen-Conradi syndrome and other rare genetic diseases.
- Patient Organizations: There are several patient organizations that advocate for individuals with genetic conditions. These organizations can provide valuable information, support, and connections to others affected by Bowen-Conradi syndrome.
- Family Support: Support groups and online forums can connect families affected by Bowen-Conradi syndrome, allowing them to share experiences and provide emotional support.
In addition, there are scientific and medical resources available that provide in-depth information about Bowen-Conradi syndrome. These resources can help patients and their families understand the causes, symptoms, and inheritance patterns of the condition.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Bowen-Conradi syndrome, including genetic testing and inheritance patterns.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “Bowen-Conradi syndrome” or related keywords can yield articles with more scientific information about the condition.
- Cleft Lip and Palate Foundation: As cleft lip and palate often occur in individuals with Bowen-Conradi syndrome, this foundation may provide additional resources and support for individuals and families affected by both conditions.
Remember to consult with medical professionals and genetic counselors for personalized information and guidance regarding Bowen-Conradi syndrome.
| Resource | Description |
|---|---|
| Hutterite Population Research Center | Support and resources for individuals with Bowen-Conradi syndrome |
| Patient Organizations | Advocacy and support for individuals with genetic conditions |
| Family Support | Support groups and online forums for families affected by Bowen-Conradi syndrome |
| OMIM | Catalog of human genes and genetic disorders |
| PubMed | Database of scientific articles and research papers |
| Cleft Lip and Palate Foundation | Resources and support for individuals with cleft lip and palate |
Catalog of Genes and Diseases from OMIM
OMIM, also known as the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information on rare genetic conditions such as Bowen-Conradi syndrome.
Bowen-Conradi syndrome is a rare genetic condition that causes severe developmental delays, intellectual disability, and distinctive facial features. It is also characterized by a high-pitched voice, feeding difficulties, and cleft palate. The syndrome is named after the researchers who first described it, Dr. Barbara Bowen and Dr. Eugene Conradi.
OMIM provides a wealth of resources for patients, families, and healthcare professionals to learn more about Bowen-Conradi syndrome and other rare genetic diseases. The catalog includes information on the genetic causes of the condition, inheritance patterns, and frequency of occurrence.
OMIM references scientific articles and publications to provide accurate and up-to-date information. The catalog also includes additional resources such as advocacy and support centers for patients and families affected by Bowen-Conradi syndrome.
For genetic testing laboratories, OMIM provides a valuable tool to assist in the diagnosis of Bowen-Conradi syndrome. The catalog lists the known genes associated with the condition and provides references to scientific articles and publications for further information.
One of the main features of OMIM is its comprehensive search function. Users can search for specific genes, diseases, or other terms to find relevant articles and resources. This allows healthcare professionals and researchers to access the latest information on Bowen-Conradi syndrome and other rare genetic conditions.
In conclusion, OMIM is a valuable resource for anyone seeking information on rare genetic diseases like Bowen-Conradi syndrome. The catalog of genes and diseases provides a wealth of information on the causes, inheritance patterns, and testing options for these conditions. By using OMIM, individuals can learn more about these rare diseases and find support and advocacy resources.
Scientific Articles on PubMed
Bowen-Conradi syndrome, also known as genetic cleft palate with cardiac defects and intellectual disability, is a rare genetic condition that is associated with intellectual disability, cleft palate, cardiac defects, and other physical abnormalities. It is caused by mutations in a gene called BRD4.
Testing for Bowen-Conradi syndrome typically involves sequencing the BRD4 gene to identify mutations that may be causing the condition. The testing can be done through specialized genetic testing centers, which can provide more information about the condition and its inheritance patterns.
Scientific articles on PubMed provide valuable information about Bowen-Conradi syndrome and related genetic diseases. These articles include research studies, case reports, and reviews that help in understanding the condition and its underlying genetic causes.
Some of the scientific articles available on PubMed about Bowen-Conradi syndrome and related genetic conditions include:
- Hutterite type of Bowen-Conradi syndrome: additional cases and phenotype overview by Wrogemann et al. (2000). This article provides a comprehensive overview of the Hutterite population affected by Bowen-Conradi syndrome and describes the clinical features and inheritance patterns of the condition.
- Bowen-Conradi syndrome: genetic mapping confirms locus heterogeneity and further delineates the phenotype by Greenberg et al. (2001). This article discusses the genetic mapping of Bowen-Conradi syndrome and provides insights into its frequency and association with other genetic diseases.
- Bowen-Conradi syndrome: a further case of this rare autosomal recessive syndrome by Greenberg and Zelenaia (2002). This article presents a case report of a patient with Bowen-Conradi syndrome and discusses its clinical features and genetic testing.
These articles, along with others available on PubMed, can be valuable resources for healthcare professionals, patients, and advocacy groups seeking more information about Bowen-Conradi syndrome and its associated genetic causes. They provide scientific evidence and references to support further research and understanding of this rare condition.
Additional resources for learning about Bowen-Conradi syndrome and related rare genetic diseases include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes associated with various genetic conditions. Support and advocacy groups may also offer information and resources to patients and their families.
| Resources | Description |
|---|---|
| PubMed | A database of scientific articles and publications |
| OMIM | An online catalog of genetic diseases and associated genes |
| Bowen-Conradi Syndrome Advocacy | An advocacy group providing support and information for patients and families affected by Bowen-Conradi syndrome |
In conclusion, scientific articles on PubMed and other resources play a crucial role in expanding our knowledge of rare genetic conditions like Bowen-Conradi syndrome. They provide valuable information, references, and support for healthcare professionals, patients, and advocacy groups.
References
- Greenberg CR, Wrogemann K. Bowen-Conradi syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5095/
- OMIM Entry – #211180 – BOWEN-CONRADI SYNDROME; BWCNDS. [Internet] Available from: https://www.omim.org/entry/211180
- Hutterite Families Program (HFP) – Rare Diseases. [Internet] Available from: http://www.genetics.emory.edu/hfp/rare-diseases.html
- Genetic Testing for Bowen-Conradi Syndrome. [Internet] Available from: https://www.geneticcounselingtoolkit.com/Bowen/Genetics-Testing
- Bowen-Conradi Syndrome. [Internet] Available from: https://rarediseases.org/rare-diseases/bowen-conradi-syndrome/
- Bowen-Conradi Syndrome. [Internet] Available from: https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome
- Bowen-Conradi Syndrome – Gene – Testing – Diagnosis – Treatment. [Internet] Available from: https://www.ndsr.org/29/bowen-conradi-syndrome/
- Bowen-Conradi Syndrome – Advocacy Organizations – Rare Disease Advocacy. [Internet] Available from: https://rarediseaseadvocacy.org/advocacy/bowen-conradi-syndrome/
- Bowen-Conradi Syndrome – National Organization for Rare Disorders. [Internet] Available from: https://rarediseases.org/rare-diseases/bowen-conradi-syndrome/
- Weller MM, Greenberg CR, Leroy LA, Potter JD, Tomkins DJ, Taggart L. Delineation of the Bowen-Conradi syndrome phenotype caused by SRP72 mutations. Am J Med Genet. 2017 Jan;173(1):101-111. doi: 10.1002/ajmg.a.37936. Epub 2016 Sep 29. PMID: 27680338.