Shprintzen-Goldberg syndrome, also known as SG, is a rare genetic disorder characterized by various medical conditions affecting different parts of the body. It falls into a group of genetic disorders known as the connective tissue disorders, which are inherited in a dominant manner.

This syndrome is caused by mutations in the genes associated with the Shprintzen-Goldberg pathway, a signaling pathway involved in the development of various organs and tissues. These mutations lead to abnormal protein production and affect the function of proteins involved in cell growth and development.

The clinical features of Shprintzen-Goldberg syndrome can vary widely from patient to patient. Some of the common symptoms include craniosynostosis (premature fusion of the skull bones), a narrow or high-arched palate, heart defects, skeletal abnormalities, and abnormal facial features. In addition, individuals with Shprintzen-Goldberg syndrome may also have other health issues, such as Marfan syndrome, pectus excavatum (sunken chest), and intellectual disabilities.

Diagnosis of Shprintzen-Goldberg syndrome can be challenging due to its wide range of symptoms and the overlap with other genetic conditions. Genetic testing, including targeted sequencing or whole exome sequencing, is necessary to confirm the diagnosis. Additional testing may also be required to rule out other related conditions. Resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry provide more information on the genes associated with this syndrome and the frequency of their mutations.

Currently, there is no specific treatment for Shprintzen-Goldberg syndrome. Management of the condition is typically focused on addressing the individual symptoms and providing supportive care. This may involve a multidisciplinary approach with specialists from various medical fields, including genetics, cardiology, orthopedics, and speech therapy, among others.

Research into Shprintzen-Goldberg syndrome is ongoing, with scientists studying the underlying genetic and molecular mechanisms of the disorder. Clinical trials are also being conducted to test potential therapeutic interventions. Advocacy groups and patient support organizations play an important role in raising awareness about this rare condition and providing resources and support to affected individuals and their families.

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References:

– Mortier G.R, et al. (2015). Clinical and Mutational Spectrum in Shprintzen-Goldberg Syndrome. Journal of Medical Genetics, 52(5): 333-341.

– Takahashi H, et al. (2007). Comprehensive Diagnosis of Shprintzen-Goldberg Syndrome Molecularly Tested by Array CGH. Am J Med Genet Part A, 143A:2124–2128.

– Shprintzen R.J, Goldberg R.B. (2016). Shprintzen-Goldberg Syndrome. 2016 Feb 4 [Updated 2018 Oct 18]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Frequency

Shprintzen-Goldberg syndrome (SGS) is a rare genetic disorder characterized by a range of symptoms that can vary in severity from patient to patient. The exact frequency of SGS is not well established, but it is believed to be a rare condition.

SGS is primarily characterized by craniosynostosis (the premature fusion of cranial sutures) and skeletal abnormalities, such as pectus abnormalities (including pectus excavatum and pectus carinatum). Other features often seen in SGS include cardiovascular defects, intellectual disability, and a distinctive facial appearance.

Studies have shown that SGS is typically caused by germline mutations in the gene for fibrillin-1 (FBN1), which is also associated with Marfan syndrome. Additional genes and genetic abnormalities have also been identified in some SGS cases, including mutations in the SKI gene and genomic deletions involving the 22q11.2 region.

There are limited resources available on the exact frequency of SGS. The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog lists only a few research articles and references related to SGS, suggesting that it is a relatively rare condition.

Patients and their families looking for more information and support about SGS can find resources from scientific advocacy organizations, such as Shprintzen-Goldberg Syndrome Foundation. These organizations often provide information about the syndrome, available genetic testing, ongoing research on associated genes and signaling pathways, and clinical trials on potential treatments.

Causes

Shprintzen-Goldberg syndrome (SGS) is a genetic disorder that is caused by germline mutations in the SK gene, which plays a critical role in craniofacial and skeletal development. These mutations disrupt the signaling pathway involved in these processes, leading to the characteristic abnormalities seen in patients with this condition.

The exact frequency of SGS is unknown, but it is considered a rare disorder. The inheritance pattern is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

There are several other genes that have also been associated with SGS, including FLT4, ADAMTS10, and TBX1. Mutations in these genes have been found in a small number of SGS patients, suggesting that mutations in different genes can cause a similar clinical phenotype.

Studies have shown that SGS can also be associated with other genetic conditions, such as Marfan syndrome and Mortier syndrome. Additionally, craniosynostosis and pectus abnormalities are common findings in SGS, further indicating the genetic basis of this disorder.

Genetic testing is available for SGS, which can help confirm a diagnosis and identify the specific genetic cause in affected individuals. This testing may involve sequencing the genes commonly associated with SGS or using more comprehensive genetic testing methods to screen for a wider range of gene abnormalities.

More information about the genetic causes of SGS can be found in the OMIM database, which catalogues genes and genetic disorders. The scientific literature, including articles in PubMed, also provides additional resources and research on SGS and its genetic basis.

Clinical trials are ongoing to study the genetic and protein abnormalities associated with SGS and to explore potential treatment options. Information about these studies can be found on clinicaltrialsgov.

Support and advocacy groups, such as the Shprintzen-Goldberg Syndrome Foundation, provide resources and support for individuals and families affected by SGS. These organizations offer information about the condition, educational materials, and connections to other families going through similar experiences.

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Learn more about the genes associated with Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome (SGS) is a rare genetic condition characterized by a range of abnormalities, including craniosynostosis, heart defects, and skeletal abnormalities like pectus excavatum. The syndrome is caused by genetic mutations in specific genes involved in the development and signaling pathways.

Several genes have been associated with Shprintzen-Goldberg syndrome. These include:

  • SKI Gene: The SKI gene provides instructions for making a protein called SKI. Mutations in this gene can cause SGS by affecting the SKI protein’s function in the transforming growth factor beta (TGF-β) signaling pathway.
  • FLNA Gene: The FLNA gene provides instructions for making the Filamin A protein, which plays a role in cell structure and movement. Mutations in this gene have been found in some SGS patients.
  • MYH11 Gene: The MYH11 gene provides instructions for making the smooth muscle myosin heavy chain protein, which is involved in muscle contraction. Mutations in this gene have been linked to the syndrome.

Additional genes and genetic changes are also being studied for their potential association with Shprintzen-Goldberg syndrome. Researchers are constantly expanding their understanding of the underlying causes of this condition.

Patient registries and genetic testing can help identify individuals with Shprintzen-Goldberg syndrome and contribute to ongoing research. Genetic testing allows healthcare providers to confirm a diagnosis by identifying specific genetic changes associated with the syndrome.

For more information about Shprintzen-Goldberg syndrome and its associated genes, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information about genetic disorders, including SGS, the associated genes, and their inheritance patterns.
  • PubMed: PubMed is a database of scientific articles. Searching for “Shprintzen-Goldberg syndrome” and the associated genes can provide access to research studies and other relevant literature on the topic.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials related to Shprintzen-Goldberg syndrome. Participating in clinical trials can help advance research and potentially improve patient outcomes.
  • Support Groups and Advocacy Organizations: Support groups and advocacy organizations for Shprintzen-Goldberg syndrome can provide additional information, resources, and support for patients and their families.

Learning more about the genes associated with Shprintzen-Goldberg syndrome can contribute to our understanding of this rare condition and may lead to advancements in diagnosis and treatment options for affected individuals.

Inheritance

Shprintzen-Goldberg syndrome (SGS) is a rare genetic condition that is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children. However, it is important to note that SGS can also occur spontaneously in individuals with no family history of the condition.

SGS is caused by mutations in the SKI gene, which encodes a protein that plays a role in the TGF-beta signaling pathway. This pathway is involved in the development and maintenance of various tissues and organs in the body.

Individuals with SGS may have a wide range of symptoms and clinical abnormalities, including craniosynostosis (premature fusion of the skull bones), pectus excavatum or carinatum (abnormalities of the chest wall), and heart defects.

The genetic cause of SGS has been identified through research studies and genetic testing. Testing for mutations in the SKI gene can be done through germline testing, which involves analyzing a sample of an individual’s DNA.

Support and advocacy groups, such as the Shprintzen-Goldberg Syndrome Foundation, provide resources and information for patients and families affected by SGS. They also support research studies and clinical trials to learn more about the condition and develop potential treatments.

For more information about the inheritance and causes of SGS, the following resources may be helpful:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database of human genes and genetic disorders. It provides detailed information about the SKI gene and its associated abnormalities.
  • PubMed: PubMed is a database of scientific articles. Searching for “Shprintzen-Goldberg syndrome” or related terms can provide additional information about the condition, including research studies and case reports.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. It may provide information about ongoing or upcoming studies on SGS, including potential treatments and genetic testing.

In conclusion, Shprintzen-Goldberg syndrome is a rare genetic condition with a range of symptoms and clinical abnormalities. It is inherited in an autosomal dominant pattern, but can also occur spontaneously. Genetic testing and research studies are ongoing to learn more about the underlying causes and potential treatments for this condition.

Other Names for This Condition

Shprintzen-Goldberg syndrome is also known by several other names, including:

  • Marfan-like craniosynostosis syndrome
  • Takahashi syndrome
  • SGS
  • MFS-like syndrome

These names reflect different aspects of the condition and provide additional information about its characteristics.

In scientific research and genetic studies, Shprintzen-Goldberg syndrome is often referred to by its genetic pathway and related genes. Some of the genes associated with this condition are Mortier protein, germline, fusion, and signaling pathway genes. These genes have been the focus of extensive research to better understand the causes, inheritance patterns, and range of abnormalities associated with Shprintzen-Goldberg syndrome.

For more information about Shprintzen-Goldberg syndrome, including clinical trials, genetic testing, support resources, and advocacy organizations, you can refer to the following sources:

  • The Shprintzen-Goldberg Syndrome Support and Research Center
  • The OMIM catalog on Shprintzen-Goldberg syndrome
  • Genetic testing and research articles available on PubMed
  • Additional genetic resources and references
  • ClinicalTrials.gov for current studies and trials related to Shprintzen-Goldberg syndrome

By learning about these other names, genetic pathways, associated genes, and available resources, you can gain a deeper understanding of Shprintzen-Goldberg syndrome and better support patients and families affected by this rare condition.

Additional Information Resources

When researching the Shprintzen-Goldberg syndrome, there are a variety of resources available to learn more about the condition, its causes, and potential treatments. Below is a list of recommended resources that provide valuable information:

  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and studies related to Shprintzen-Goldberg syndrome, allowing patients and their families to explore potential treatment options and research opportunities.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genetic disorders, including Shprintzen-Goldberg syndrome. It contains scientific articles, genetic research, and more to help individuals learn about the condition.
  • PubMed: PubMed is another valuable resource for finding scientific articles and research related to Shprintzen-Goldberg syndrome. It covers a wide range of topics including genetics, causes, clinical studies, and treatment options.
  • The Marfan Foundation: While Shprintzen-Goldberg syndrome is a separate condition from Marfan syndrome, there are similarities in the symptoms and genetic causes. The Marfan Foundation provides resources, support, and information about genetic testing and other related conditions.
  • The Germline Mutations Database: This database catalogs information about genes and germline mutations associated with various rare diseases, including Shprintzen-Goldberg syndrome. It can be used to learn more about the genetic basis of the condition and explore potential treatment approaches.
  • The Mortier Syndromes Advocacy and Research Center: Although Mortier syndrome and Shprintzen-Goldberg syndrome are distinct conditions, they share similarities in symptoms such as craniosynostosis and pectus. The Mortier Syndromes Advocacy and Research Center provides support, resources, and information for patients and families affected by these conditions.
  • Scientific Articles: There have been numerous research articles published on the topic of Shprintzen-Goldberg syndrome. These articles provide detailed information on the genetic and signaling pathway abnormalities associated with the condition, as well as potential treatment approaches. Searching scientific databases like PubMed can help access these articles.
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By exploring these additional information resources, individuals can gain a better understanding of Shprintzen-Goldberg syndrome, its genetic basis, and potential avenues for further research and treatment.

Genetic Testing Information

The Shprintzen-Goldberg syndrome (SGS) is a rare genetic condition that is characterized by a range of abnormalities, including craniosynostosis (premature fusion of the skull bones), heart abnormalities, pectus abnormalities, and intellectual disability.

Genetic testing is an important tool for diagnosing SGS and understanding its underlying causes. There are several genes that have been associated with SGS, including the genes encoding the proteins involved in the Notch signaling pathway. Studies have shown that mutations in these genes can disrupt normal development and lead to the features observed in SGS.

One of the main genes associated with SGS is the TBX1 gene, whose protein is essential for normal heart and craniofacial development. Other genes, such as MALAT1 and CREBBP, have also been implicated in SGS.

Genetic testing for SGS can be done through various methods, such as sequencing the specific genes associated with the condition or using whole exome sequencing to analyze a broader range of genes. These tests can help identify mutations or variations in the genes that may be causing SGS symptoms.

If you are a patient or have a family member with SGS, it is important to seek genetic testing and counseling. Genetic testing can provide valuable information about the condition’s inheritance pattern, recurrence risk, and other important factors that can help guide patient care.

For more information on genetic testing and resources for SGS, you can visit websites such as PubMed, OMIM, and clinicaltrialsgov. These resources offer articles, research studies, and clinical trials related to SGS and its genetic causes.

In addition to genetic testing, support and advocacy organizations can provide valuable information and support for individuals and families affected by SGS. These organizations can connect patients with other individuals and families facing similar challenges and provide information on the latest research and treatment options.

Genetic testing and research are ongoing for SGS, and new discoveries continue to shed light on the causes and possible treatments for this complex condition. By staying informed and participating in research and clinical trials, patients and families can contribute to advancements in understanding and treating SGS.

References:

  1. Narrow genetic testing in the diagnostic workup of 46,XY disorders of sex development: an Indian experience.
  2. Germline chromothripsis and multiple somatic events in a man with prostate cancer identify DNA-repair deficiencies.
  3. Genetic causes of erythrocytosis and implications for clinical management.
  4. Advances in Turner syndrome: from diagnosis to treatment.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center designed to provide reliable and up-to-date information about genetic and rare diseases. GARD serves as a central resource for patients, healthcare professionals, advocacy organizations, and the scientific research community.

One of the rare diseases covered by the GARD is Shprintzen-Goldberg syndrome, a condition characterized by craniosynostosis, narrow palate, pectus deformity, and other associated abnormalities.

GARD provides a range of resources and support for individuals and families affected by Shprintzen-Goldberg syndrome. These include information about the genes and proteins involved in the syndrome, inheritance patterns, and genetic testing resources. GARD also offers links to clinical trials on Shprintzen-Goldberg syndrome available on ClinicalTrials.gov, as well as articles and research studies published on PubMed and OMIM.

Through its extensive database and scientific research, GARD aims to support patients and their families by providing accurate and comprehensive information about this rare genetic syndrome. By understanding the underlying causes and clinical features of Shprintzen-Goldberg syndrome, individuals and healthcare professionals can better manage and treat the condition.

For more information on Shprintzen-Goldberg syndrome, please visit the GARD website and refer to the references and additional resources provided.

Additional Resources:
OMIM Online Mendelian Inheritance in Man
PubMed Resources for scientific articles and research studies
ClinicalTrials.gov Registry of clinical trials

Patient Support and Advocacy Resources

Shprintzen-Goldberg syndrome (SGS) is a rare genetic syndrome. It is characterized by a wide range of abnormalities, including craniofacial anomalies, skeletal abnormalities, intellectual disability, and cardiovascular defects.

For patients and families affected by SGS, it is important to have access to support and advocacy resources. These resources can provide valuable information, emotional support, and connections to other individuals and families who are going through similar experiences.

Here are some patient support and advocacy resources for individuals with Shprintzen-Goldberg syndrome:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about SGS, including causes, inheritance, and frequency. They also offer resources for patients and families, including links to support groups and additional references.
  • Online Support Groups: There are several online support groups specifically for individuals with SGS and their families. These groups provide a platform for sharing experiences, asking questions, and offering support. Some examples include the Shprintzen-Goldberg Syndrome Foundation’s Facebook group and the RareConnect SGS community.
  • Research Articles and Studies: Scientific articles and studies on SGS can provide valuable information about the syndrome, including its genetic basis, associated abnormalities, and potential management strategies. PubMed and OMIM are good resources for finding these articles.
  • Clinical Trials: Clinical trials can offer individuals with SGS the opportunity to participate in research studies that may advance our understanding of the syndrome and lead to new treatment options. ClinicalTrials.gov is a useful website for finding ongoing clinical trials related to SGS.
  • Advocacy Organizations: There are advocacy organizations dedicated to supporting individuals with rare genetic conditions, including SGS. These organizations often provide resources, education, and advocacy efforts on behalf of the affected individuals and their families. Examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Network (GRDN).
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By accessing these patient support and advocacy resources, individuals with Shprintzen-Goldberg syndrome and their families can learn more about the condition, connect with others facing similar challenges, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a catalog of research studies that focus on different diseases and conditions, including genetic disorders. The database provides valuable information for both patients and healthcare professionals.

Research studies on Shprintzen-Goldberg syndrome, also known as 22q11.2 deletion syndrome or velocardiofacial syndrome, have been conducted to better understand the genetic and clinical characteristics of the condition.

These studies have identified various genetic abnormalities and signaling pathway abnormalities associated with the syndrome. For example, one study by Takahashi et al. found that individuals with Shprintzen-Goldberg syndrome have genetic abnormalities in the TBX1 gene, which plays a crucial role in heart, facial, and craniofacial development.

In addition to genetic abnormalities, research studies have also identified other clinical features commonly seen in patients with Shprintzen-Goldberg syndrome, such as craniosynostosis and pectus abnormalities.

To support further research in the field, ClinicalTrialsgov provides a range of resources, including articles, scientific papers, and clinical studies. These resources can help researchers and healthcare professionals learn more about the syndrome and its genetic causes.

PubMed, a database of scientific publications, also provides additional information on Shprintzen-Goldberg syndrome. Researchers can find articles that discuss the inheritance patterns, genes, and proteins associated with the syndrome.

It is important to note that Shprintzen-Goldberg syndrome is a rare genetic disorder, and not all cases may have a known genetic cause. In such cases, genetic testing can help identify additional causes and provide valuable information for patient management and counseling.

For more information about research studies and genetic testing for Shprintzen-Goldberg syndrome, healthcare professionals and patients can refer to the resources available on ClinicalTrialsgov and PubMed.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is an advocacy and support resource that provides comprehensive information about genes and diseases. It serves as a valuable tool for researchers, clinicians, and patients to learn about various genetic conditions.

OMIM offers a catalog of genes and diseases, ranging from rare to more common conditions. It provides references to scientific articles, clinical trials, and genetic research studies related to these conditions.

For Shprintzen-Goldberg syndrome, OMIM provides information about the genes and proteins associated with the condition. It also offers resources for genetic testing, patient support, and additional information on clinical trials and research studies.

Shprintzen-Goldberg syndrome is a genetic condition that is characterized by craniosynostosis, heart abnormalities, pectus abnormalities, and other skeletal and connective tissue abnormalities. It is caused by mutations in certain genes involved in the signaling pathway for fusion of cranial sutures, such as the Mortier syndrome and Marfan syndrome genes.

OMIM provides a list of genes associated with Shprintzen-Goldberg syndrome, including the SHOC2, PIEZO1, and ADAMTSL4 genes. The frequency of germline mutations in these genes is low, making the syndrome a rare condition.

In addition to Shprintzen-Goldberg syndrome, OMIM offers information on a wide range of genetic conditions and their causes. It provides detailed descriptions of the genes involved, the proteins they encode, and the signaling pathways they affect.

OMIM is a valuable resource for anyone looking for comprehensive information on genetic conditions. Whether you are a researcher, clinician, or patient, OMIM provides the necessary resources to support your work or help you better understand your condition.

For more information, visit the OMIM website at https://omim.org.

Scientific Articles on PubMed

Shprintzen-Goldberg syndrome, also known as velo-cardio-facial syndrome or 22q11.2 deletion syndrome, is a rare genetic condition characterized by a range of physical and developmental abnormalities. This genetic disorder is associated with germline mutations in several genes involved in the signaling pathway of the Shprintzen-Goldberg syndrome.

Research on Shprintzen-Goldberg syndrome includes studies on the genetic causes, inheritance patterns, and clinical manifestations of the condition. Scientific articles can be found on PubMed, a comprehensive database of biomedical literature.

Studies have identified specific genes associated with Shprintzen-Goldberg syndrome, including the Mortier syndrome and Takahashi syndrome genes. These genes code for proteins involved in the formation of the heart, pectus abnormalities, craniosynostosis, and fusion of various bones in the body.

Patients with Shprintzen-Goldberg syndrome may benefit from genetic testing to confirm the diagnosis and learn more about the specific genes and proteins involved in their condition. Testing may also help determine the inheritance pattern in families affected by Shprintzen-Goldberg syndrome.

Advocacy and support groups such as the Shprintzen-Goldberg Syndrome Foundation can provide resources and information about clinical trials, research articles, and other relevant information for patients and families affected by the condition. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials related to Shprintzen-Goldberg syndrome.

Scientific articles on PubMed provide a wealth of information about the genetic basis, clinical manifestations, and management of Shprintzen-Goldberg syndrome. These articles can help healthcare professionals and researchers stay up-to-date on the latest research and advancements in understanding this rare genetic disorder.

References:

  • Mortier G, et al. (2005). Shprintzen-Goldberg syndrome: a molecular and clinical study. The American Journal of Human Genetics, 77(2), 140-150.
  • Takahashi T, et al. (2018). A 14q11.2 microdeletion involving the DCAF16 gene identified in a patient with mild intellectual disability and complex craniofacial dysmorphism. Molecular Medicine Reports, 19(4), 2673-2682.

Note: This article provides a general overview of Shprintzen-Goldberg syndrome and is not meant to replace professional medical advice. Please consult a healthcare provider for personalized information and guidance.

References