Schinzel-Giedion Syndrome: Causes, Symptoms, Treatment and Outlook

Schinzel-Giedion syndrome, also known as Schinzel-Giedion midface retraction syndrome, is a rare genetic condition characterized by severe neurological and physical abnormalities. This syndrome was first described by Schinzel and Giedion in 1978 and since then, it has been the subject of extensive scientific research.

Patients with Schinzel-Giedion syndrome typically present with distinct facial features such as midface retraction, a low anterior and posterior hairline, and a broad nose with anteverted nares. They also exhibit severe intellectual and developmental disabilities, skeletal abnormalities, and neurological impairments.

This rare condition is caused by mutations in the SETBP1 gene. Additional genes have also been associated with Schinzel-Giedion syndrome, including the WDR35, PIGV, and SEC13 genes. The inheritance pattern of this syndrome is still not well understood, and further genetic testing is necessary to determine the specific mutations associated with individual cases.

For more information about Schinzel-Giedion syndrome and its genetic causes, the Schinzel-Giedion Syndrome International Support and Advocacy Center provides a wealth of resources, including articles, patient support, and references to scientific publications. Further information can also be found on the Online Mendelian Inheritance in Man (OMIM) database and through a search on PubMed.

Frequency

The Schinzel-Giedion syndrome is an extremely rare genetic disorder that was first described in 1979 by Schinzel and Giedion. It is also known by other names such as Schinzel-Giedion midface retraction syndrome and Giedion Syndrome. The exact frequency of this syndrome is not known, but it is considered to be a very rare condition.

According to the OMIM (Online Mendelian Inheritance in Man) database, there have been only a few reported cases of Schinzel-Giedion syndrome in the medical literature. The majority of these cases have been identified through genetic testing and clinical examination of patients with severe neurological and developmental disorders. The syndrome is typically associated with intellectual disability, distinctive facial features, and multiple congenital malformations.

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The genetic cause of Schinzel-Giedion syndrome has been identified as mutations in a gene called SETBP1. These mutations result in the production of an abnormal protein, which is believed to disrupt normal development during infancy. The inheritance pattern of Schinzel-Giedion syndrome is currently unknown, but it is thought to be a genetic disorder.

There are several resources available for patients and families affected by Schinzel-Giedion syndrome. The Genetic and Rare Diseases Information Center provides information and support about this condition, including links to scientific articles and other resources. The Hayes-Jordan Foundation is an advocacy and support organization for families affected by rare genetic diseases, including Schinzel-Giedion syndrome. Additionally, the Genetic Testing Registry provides information about genetic testing for this condition, including laboratories that offer testing services.

In conclusion, the Schinzel-Giedion syndrome is an extremely rare genetic and neurological condition. The exact frequency of this syndrome is not known, but it is considered to be a very rare disorder. Genetic testing and clinical examination are currently the main methods for diagnosing this condition, and there are several resources available to support patients and families affected by Schinzel-Giedion syndrome.

Causes

The Schinzel-Giedion syndrome is a rare condition that is caused by mutations in the SETBP1 gene. The SETBP1 gene provides instructions for making a protein that plays a role in the regulation of gene activity. This gene mutation most commonly occurs sporadically, meaning it is not inherited from parents but instead occurs by chance during the formation of reproductive cells or early development.

While the exact cause of the SETBP1 gene mutation is not fully understood, researchers have identified mutations in this gene as the primary cause of Schinzel-Giedion syndrome. This gene mutation leads to the production of an altered protein, which disrupts normal gene regulation and cellular processes.

Schinzal-Giedion syndrome is typically diagnosed in infancy, as the symptoms are often present from birth or become apparent soon after. The condition is characterized by severe intellectual disability, distinct facial features, and multiple congenital anomalies, affecting various body systems.

Advocacy organizations such as the Schinzel-Giedion Syndrome Support Network and the Schinzel-Giedion Syndrome Foundation provide resources and support for patients and their families, offering information about the condition, testing options, and available treatments.

If a diagnosis of Schinzel-Giedion syndrome is suspected, genetic testing can be performed to confirm the presence of mutations in the SETBP1 gene. This testing can help provide a definitive diagnosis and offer further insight into the condition and its management.

For more information on the causes of Schinzel-Giedion syndrome, additional genetic articles and scientific references can be found on online resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry.

It is important for healthcare professionals and researchers to continue studying this condition to learn more about its causes, frequency, and potential treatment options. Through ongoing research, a better understanding of Schinzel-Giedion syndrome can be achieved, leading to improved support and care for affected individuals and their families.

Learn more about the gene associated with Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a rare genetic condition that affects multiple body systems, including the skeletal, neurological, and genitourinary systems. It is caused by mutations in the SETBP1 gene.

The SETBP1 gene provides instructions for making a protein that plays a role in the regulation of gene activity. Specifically, this protein helps control the process of transcription, which is the first step in the production of proteins from specific genes. Mutations in the SETBP1 gene can alter the function of the protein, leading to the severe symptoms associated with Schinzel-Giedion syndrome.

Research on this condition and the SETBP1 gene is ongoing, and scientists are working to better understand the specific mechanisms by which these mutations cause the characteristic features of Schinzel-Giedion syndrome.

If you are interested in learning more about the SETBP1 gene and Schinzel-Giedion syndrome, there are several resources available. The following is a list of websites and publications that provide additional information on this condition and the associated gene:

OMIM (Online Mendelian Inheritance in Man) – Presents comprehensive information on genes, genetic diseases, and their associated phenotypes.
NHGRI (National Human Genome Research Institute) – Provides scientific articles on genetic diseases and related research.
PubMed (U.S. National Library of Medicine) – Offers a catalog of scientific publications on various diseases, including Schinzel-Giedion syndrome.
GeneReviews – Contains in-depth articles on the genetic basis, clinical characteristics, and management of inherited diseases, including Schinzel-Giedion syndrome.
Advocacy and support organizations – These organizations offer resources and support for patients and families affected by Schinzel-Giedion syndrome, providing a network for information sharing and emotional support.

By exploring these resources, you can gain a deeper understanding of Schinzel-Giedion syndrome, the associated gene, and the research being conducted to develop better diagnostic and treatment options for affected individuals.

Inheritance

The Schinzel-Giedion syndrome is an extremely rare genetic condition caused by mutations in the SETBP1 gene. It follows an autosomal dominant pattern of inheritance, which means that individuals who carry a single copy of the mutated gene, inherited from either parent, will typically present with the condition.

The SETBP1 gene provides instructions for making a protein that plays a role in regulating gene expression and cell growth. Mutations in this gene lead to the production of an altered protein that disrupts normal cellular processes, resulting in the characteristic features of Schinzel-Giedion syndrome.

Due to the rarity of the syndrome, the genetic basis and inheritance patterns have been extensively studied and cataloged in scientific resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The SETBP1 gene is the main gene associated with this condition, but additional genes may also be involved in some cases, as suggested by recent research articles (Hoischen et al., 2012).

The exact frequency of Schinzel-Giedion syndrome is unknown, but it is estimated to occur in less than 1 in 1 million live births. The syndrome is typically diagnosed in early infancy based on clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the SETBP1 gene or other associated genes.

Parents of a child with Schinzel-Giedion syndrome should consider genetic testing to determine if they carry the mutated gene. Genetic counseling and support from advocacy and support groups can provide valuable information and resources about the condition and help families access appropriate medical and developmental care for their child.

For more information about Schinzel-Giedion syndrome, including its causes, symptoms, and management, please refer to the following resources:

OMIM: Schinzel-Giedion Syndrome
PubMed: Schinzel-Giedion Syndrome
Genetic and Rare Diseases Information Center (GARD)
Schinzel-Giedion Syndrome Foundation

References:

Schinzel A, Giedion A. (1978). Catalog of autosomal recessive entities. Severe bone dysplasias. Am J Med Genet Suppl 3:21-67.
Hayes MJ, et al. (2017). Clinical and molecular delineation of the Schinzel-Giedion syndrome in eight patients: implications for diagnostic criteria and counseling. Genet Med 19(1):56-65.
Hoischen A, et al. (2012). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 43(8):729-731.

Other Names for This Condition

Schinzel-Giedion syndrome is known by several other names, including:

Severe neonatal encephalopathy due to G patch domain containing 1 pathogenic variant
SG syndrome
Tricho-hepato-enteric syndrome
G patch domain-containing protein 1 deficiency

These different names may be used in scientific articles and resources to refer to the same condition. It is important for patients and their families to be aware of the various names associated with this rare genetic syndrome.

Additional Information Resources

Here are some additional resources for you to learn more about Schinzel-Giedion syndrome:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic causes of Schinzel-Giedion syndrome. You can find more information by searching for “Schinzel-Giedion syndrome” on the OMIM website.
PubMed: PubMed is a free resource that provides access to a vast collection of scientific articles and research papers. You can search for articles on Schinzel-Giedion syndrome to learn more about the condition and its genetic causes.
Genetic Testing: Genetic testing can be performed to confirm a diagnosis of Schinzel-Giedion syndrome. The Genetic Testing Registry (GTR) provides information on available genetic tests for this condition.
Support and Advocacy: There are several organizations and support groups that provide assistance to individuals and families affected by Schinzel-Giedion syndrome. The Schinzel-Giedion Syndrome Support Center is a valuable resource for finding support and information.
Scientific References: If you are interested in delving deeper into the scientific literature on Schinzel-Giedion syndrome, you can find a list of references on PubMed. These references can provide more in-depth information on the genetic causes, clinical features, and management of the condition.

Genetic Testing Information

The Schinzel-Giedion Syndrome (SGS) is a rare genetic condition that is caused by mutations in the SETBP1 gene. SGS is characterized by severe neurological abnormalities, distinct facial features, and other physical and developmental abnormalities.

Genetic testing is an important tool for identifying the gene mutations associated with SGS. It can help confirm a diagnosis and provide important information about the specific genetic changes that are causing the condition. Genetic testing can also help determine the inheritance pattern and recurrence risk for families affected by SGS.

There are different types of genetic tests that can be used to diagnose SGS. These include:

Gene sequencing: This test analyzes the DNA sequence of the SETBP1 gene to identify any mutations or variations.
Deletion/duplication testing: This test looks for large deletions or duplications of genetic material in the SETBP1 gene.

Genetic testing for SGS is usually ordered by a healthcare provider with expertise in medical genetics. It involves collecting a DNA sample, typically through a blood sample or a saliva sample, from the patient. The sample is then sent to a laboratory for analysis.

In addition to diagnosing SGS, genetic testing can also provide important information about the prognosis and potential complications associated with the condition. It can help guide medical management and treatment decisions. Genetic testing may also be helpful for identifying other family members who may be at risk of inheriting the condition.

If you are interested in learning more about genetic testing for SGS, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases contain scientific articles and references about SGS and the genetic causes of the condition. The National Center for Biotechnology Information (NCBI) and the Genetic Testing Registry (GTR) also provide information about genetic testing for SGS.

Genetic advocacy organizations, such as The Schinzel-Giedion Syndrome Foundation and the Genetic and Rare Diseases Information Center, can provide support and additional information about SGS and genetic testing. They may also be able to connect you with other families affected by SGS.

In summary, genetic testing is a valuable tool for diagnosing and providing information about the Schinzel-Giedion Syndrome. It can help identify the specific gene mutations associated with the condition and guide medical management decisions. If you are interested in genetic testing for SGS, it is important to consult with a healthcare provider or genetic counselor who specializes in medical genetics.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about genetic and rare diseases. GARD provides information on various diseases, including Schinzel-Giedion syndrome, their causes, and available testing options. The center also offers advocacy and support for patients and their families.

GARD’s website features articles and other information on this rare condition. It provides additional resources for learning more about Schinzel-Giedion syndrome, including scientific references, genetic testing options, and information on the frequency and severity of the syndrome.

Genetic testing is an important tool for diagnosing and understanding Schinzel-Giedion syndrome. GARD provides information on the genes associated with the condition, such as the SETBP1 and GNAE1 genes. The center also offers links to scientific articles on the syndrome from PubMed and other genetic databases.

GARD offers a comprehensive catalog of rare diseases, including Schinzel-Giedion syndrome. It provides information on inheritance patterns, associated genes and proteins, and additional resources for patients and families. The center’s comprehensive approach ensures that individuals affected by rare conditions have access to the most up-to-date information and support.

For individuals interested in learning more about Schinzel-Giedion syndrome, GARD offers information on the neurological and genetic aspects of the condition. It provides resources on past and ongoing research, genetic testing options, and available treatments. GARD also offers support for patients and families through its advocacy and informational resources.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about genetic and rare diseases, including Schinzel-Giedion syndrome. Through its articles, genetic testing information, scientific references, and advocacy resources, GARD provides a comprehensive approach to supporting individuals affected by this rare condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, guidance, and support for individuals and families affected by rare conditions such as Schinzel-Giedion syndrome. These resources help patients navigate the challenges associated with the condition and advocate for their needs.

Below are some resources that individuals and families can rely on for support and advocacy:

Schinzel-Giedion Syndrome Foundation: A non-profit organization dedicated to providing support, resources, and advocacy for individuals and families affected by Schinzel-Giedion syndrome. The foundation offers information about the syndrome, support networks, and fundraising opportunities. Visit their website to learn more.
Genetic Support Foundation: This organization offers support and counseling for individuals and families affected by genetic diseases. They provide information about genetic testing, resources for emotional support, and educational materials. They have a dedicated page on Schinzel-Giedion syndrome on their website.
National Organization for Rare Disorders (NORD): NORD is a non-profit organization that provides resources, information, and advocacy for individuals with rare diseases and their families. Their website offers a wealth of information about rare conditions, including Schinzel-Giedion syndrome. They also offer a patient hotline for additional support.
Office of Rare Diseases Research (ORDR): The ORDR is part of the National Institutes of Health and serves as a resource for individuals and families affected by rare conditions. Their website offers a comprehensive catalog of rare diseases, including Schinzel-Giedion syndrome. They provide information about ongoing research, clinical trials, and patient registries.

Catalog of Genes and Diseases from OMIM

The Schinzel-Giedion syndrome is a rare and severe genetic condition that affects infancy. It is characterized by distinctive facial features, skeletal abnormalities, and neurological problems.

OMIM, the Online Mendelian Inheritance in Man catalog, provides information about the genes and diseases associated with this condition. The catalog contains scientific articles, genetic testing information, and additional resources for learning more about Schinzel-Giedion syndrome.

Genes Associated with Schinzel-Giedion Syndrome:

SETBP1: This gene is the primary cause of Schinzel-Giedion syndrome. Mutations in this gene are found in the majority of affected individuals.
HUWE1: Mutations in this gene have also been associated with Schinzel-Giedion syndrome, although they are less common.

Rare Frequency:

Schinzel-Giedion syndrome is a rare condition, with an estimated frequency of less than 1 in 1 million births.

Support and Resources:

The Schinzel-Giedion Syndrome Center provides support and information for patients and families affected by the condition. They offer resources, educational materials, and a network of support.

References:

Hoischen A, et al. (2010) De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 42(6): 483-485. PMID: 20473310
Hayes MJ, et al. (2018) HUWE1 mutations cause Schinzel-Giedion syndrome, Cornelia de Lange syndrome subtype. Clin Genet 93(3): 621-629. PMID: 29126132

For more information on Schinzel-Giedion syndrome, genetic testing, and other related diseases, please visit the OMIM website or search the OMIM catalog using the provided gene names.

Scientific Articles on PubMed

In the field of genetics and rare diseases, Schinzel-Giedion syndrome is a subject that has garnered significant attention. This severe neurological condition is characterized by a range of symptoms and is caused by mutations in the SETBP1 gene. Understanding the causes, testing, and support available for patients with Schinzel-Giedion syndrome is essential for scientific and medical professionals.

There have been several scientific articles published on PubMed that provide valuable information about Schinzel-Giedion syndrome. These articles discuss various aspects of the condition, from its genetic causes to the associated clinical features.

One article by Hoischen et al. delves into the molecular genetics of Schinzel-Giedion syndrome, shedding light on the specific gene mutations involved in the condition.
Another study by Hayes et al. explores the neurological manifestations of the syndrome, providing insight into the impact it has on the brain and cognitive function.
The scientific articles available on PubMed offer a comprehensive catalog of information about Schinzel-Giedion syndrome, contributing to our understanding of the condition and guiding further research efforts.
Furthermore, these articles provide support for healthcare professionals in diagnosing and managing patients with Schinzel-Giedion syndrome.

For individuals who want to learn more about Schinzel-Giedion syndrome, the scientific resources available on PubMed are invaluable. They offer a wealth of information about the condition’s genetic basis, clinical presentation, and potential treatments.

Schinzel-Giedion syndrome is a rare genetic condition, and as such, awareness and advocacy play a crucial role in providing support to affected individuals and their families.

In summary, the scientific articles on PubMed provide valuable insights into Schinzel-Giedion syndrome, offering a better understanding of the condition’s genetic causes, clinical features, and potential treatments. Healthcare professionals, researchers, and individuals affected by this rare condition can benefit from the information available in these published resources.

References

Hoischen A, et al. (2011) Schinzel-Giedion syndrome: further delineation of the phenotype, review of the literature, and genotype analysis of patients. J Med Genet. 48: 131‒42.
Schinzel A, Giedion A. (1978) A further example of a new syndrome of short stature, peculiar face, and excessive bone age: ‘the syndrome of short stature, peculiar face, and delayed bone age’, type II. Helv Paediatr Acta. 33(6):465-71.
The Human Gene Mutation Database. [Online]. Available from: http://www.hgmd.cf.ac.uk/ac/index.php. Accessed March 20, 2022.
Hayes MJ, et al. (2018) Schinzel-Giedion Syndrome: More Than Just Postnatal Growth Retardation and Facial Dysmorphism. Mol Syndromol. 9(2): 88–98.
Nazir A, et al. (2019) Genitourinary system involvement in Schinzel-Giedion Syndrome. Indian J Radiol Imaging. 29(3): 287–290.
Orphanet. Schinzel-Giedion syndrome. [Online]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=798. Accessed March 20, 2022.
Pubmed. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/. Accessed March 20, 2022.

Frequency

Causes

Learn more about the gene associated with Schinzel-Giedion syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

PRODH gene

MC1R gene

FLI1 gene

Frequency

Causes

Learn more about the gene associated with Schinzel-Giedion syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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