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Snyder-Robinson syndrome is a rare genetic condition that leads to intellectual disability, speech and language delays, and osteoporosis. It is caused by a deficiency of the spermine synthase enzyme, which is encoded by the SMS gene. The inheritance of this condition is X-linked recessive, meaning it primarily affects males, although there have been a few reported cases in females.

Individuals with Snyder-Robinson syndrome typically have low muscle tone and may experience difficulty with motor skills. They may also exhibit distinctive facial features, such as a long face, prominent forehead, and wide-set eyes. Additionally, affected individuals often have weak bones and are at an increased risk for fractures.

Diagnosis of Snyder-Robinson syndrome can be confirmed through genetic testing, including sequencing of the SMS gene. Testing for this condition is available through specialized laboratories and genetic testing centers.

There is currently no cure for Snyder-Robinson syndrome, but there are resources available to support individuals and families affected by this condition. These include advocacy organizations, support groups, and online resources that provide information and support. The Snyder-Robinson Foundation is one such organization dedicated to raising awareness and supporting research on this rare genetic disease.

There are limited scientific articles and research studies on Snyder-Robinson syndrome due to its rarity. However, additional information can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, as well as in articles and references published on PubMed and other scientific databases.

Frequency

The Snyder-Robinson syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000 people. It is caused by mutations in the Spermine Synthase (SMS) gene. The condition was first described by Dr. Robert J. Stevenson and Dr. O.S. Wood in 1969.

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The Snyder-Robinson syndrome is inherited in an X-linked recessive manner. This means that the syndrome primarily affects males, while females can be carriers of the mutated gene without showing signs or symptoms of the condition.

The genetic deficiency associated with the Snyder-Robinson syndrome leads to a variety of signs and symptoms, including intellectual disability, speech and language difficulties, osteoporosis, and other syndromic features.

Due to the rarity of the condition, there are limited resources available for testing and genetic counseling. However, advancements in genetic testing technologies have made it possible to diagnose Snyder-Robinson syndrome more accurately. The Online Mendelian Inheritance in Man (OMIM) database and other genetic testing centers provide more information about the condition, including patient resources and scientific articles.

Support and advocacy organizations, such as the Snyder-Robinson Foundation, also offer resources and support for individuals and families affected by the syndrome. These organizations aim to raise awareness, provide education, and fund research to further understand the causes and treatment options for Snyder-Robinson syndrome.

References:

Causes

The Snyder-Robinson syndrome is a rare genetic condition that is caused by mutations in the Spermine Synthase Gene (SMS) located on the X chromosome. This gene provides instructions for making an enzyme called spermine synthase, which is involved in the production of spermine. Spermine is a small molecule that is important for the normal function of cells.

Individuals with Snyder-Robinson syndrome have mutations in the SMS gene that lead to a deficiency of spermine synthase. This deficiency disrupts the normal production of spermine and leads to the signs and symptoms associated with the condition.

The inheritance of Snyder-Robinson syndrome is considered X-linked. This means that the condition primarily affects males and is passed down from carrier females. Carrier females have one mutated copy of the SMS gene, but generally do not experience symptoms of the condition.

Due to the rarity of Snyder-Robinson syndrome, there are limited scientific articles and resources available to learn more about the causes and the condition. However, there are advocacy and support groups that provide additional information and resources for patients and families affected by the syndrome.

If you are interested in learning more about the genetic causes of Snyder-Robinson syndrome, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed scientific information about various genetic diseases, including Snyder-Robinson syndrome and the associated genes and mutations.

The Snyder-Robinson Research Center at the Greenwood Genetic Center also conducts research and provides genetic testing for this condition. Genetic testing can help confirm a diagnosis of Snyder-Robinson syndrome by identifying mutations in the SMS gene. Testing is available for individuals suspected of having the condition, as well as for carrier testing in female family members.

In addition to the genetic causes, Snyder-Robinson syndrome is also associated with various other signs and symptoms. These may include intellectual disability, speech and language delays, skeletal abnormalities, and problems with balance and coordination. The frequency and severity of these additional features may vary among affected individuals.

For more information about the causes and associated diseases of Snyder-Robinson syndrome, you can explore scientific articles available on PubMed. PubMed is a database that provides access to a wide range of scientific literature and research papers.

Learn more about the gene associated with Snyder-Robinson syndrome

Snyder-Robinson syndrome is a rare genetic condition that affects various systems in the body, leading to developmental and intellectual disability, speech and language delays, muscle weakness, and other signs and symptoms. It is caused by mutations in the Spermine Synthase (SMS) gene.

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The SMS gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of a molecule called spermine, which is important for the normal functioning of cells. Mutations in the SMS gene lead to a deficiency of spermine synthase and a decrease in spermine levels, which can disrupt cellular processes and contribute to the symptoms of Snyder-Robinson syndrome.

For additional information about Snyder-Robinson syndrome and the associated gene, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can search for the Snyder-Robinson syndrome entry (OMIM #309583) to learn more about the condition and the SMS gene.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) provides information about rare genetic conditions, including Snyder-Robinson syndrome. They have a comprehensive article on the syndrome, which includes information on its signs and symptoms, inheritance, frequency, and genetic testing.
  • PubMed: PubMed is a database of scientific articles. You can search for articles related to Snyder-Robinson syndrome and the SMS gene to access the latest research and scientific findings.
  • Snyder-Robinson Syndrome Foundation: This advocacy and support group offers resources and support for individuals and families affected by Snyder-Robinson syndrome. Their website provides information on the syndrome, patient stories, and opportunities to get involved in research and fundraising efforts.

Learning more about the gene associated with Snyder-Robinson syndrome can help improve our understanding of the condition and facilitate the development of potential treatments and interventions.

Inheritance

The Snyder-Robinson syndrome is a rare genetic condition that is inherited in an X-linked recessive pattern. This means that the syndrome predominantly affects males, as they only have one X chromosome. Females, who have two X chromosomes, are typically carriers of the condition without any symptoms.

The frequency of the syndrome is not well established, but it is considered to be a rare condition. It has been reported in a small number of patients in the medical literature.

The syndrome is caused by mutations in the gene SMS, which stands for spermine synthase. This gene provides instructions for making an enzyme that is involved in the production of a molecule called spermine. Mutations in the SMS gene lead to a deficiency of spermine, which affects various cellular processes in the body.

Information about the inheritance and genetic basis of the Snyder-Robinson syndrome can be found in the OMIM database, a comprehensive catalog of human genes and genetic conditions. This resource provides additional articles and resources for learning about the syndrome and its associated genes.

Genetic testing can be used to confirm a diagnosis of Snyder-Robinson syndrome and identify the specific mutations in the SMS gene. It can also help to determine carrier status in females.

Support and advocacy organizations, such as the Snyder-Robinson Foundation, can provide more information about the syndrome, including resources for families and opportunities for participation in research studies.

Other Names for This Condition

Snyder-Robinson syndrome is a rare genetic disorder that leads to intellectual disability and osteoporosis. It is also known by other names, including:

  • Type 2 osteopetrosis with renal tubular acidosis
  • Syndromic X-linked intellectual disability Snyder-Robinson type
  • Syndromic X-linked osteoporosis
  • Wood-Ladder-Stevenson syndrome
  • Snyder-Robinson X-linked intellectual disability syndrome
  • OMIM 309583

This condition was first described by Snyder and Robinson in 1969, hence the name Snyder-Robinson syndrome. It is inherited in an X-linked recessive manner, which means that it primarily affects males. Females can be carriers of the condition but usually do not show symptoms.

The exact frequency of Snyder-Robinson syndrome is not known, but it is considered to be a rare condition. Due to its rarity, there may be limited resources and support available for individuals and families affected by this syndrome.

Scientists have identified mutations in the Spermine Synthase (SMS) gene as the cause of Snyder-Robinson syndrome. This gene provides instructions for making an enzyme that is essential for the production of the molecule spermine. Spermine is involved in many cellular functions, including the maintenance of bone density and the development of nerve cells.

If you or someone you know has Snyder-Robinson syndrome, it is important to seek genetic testing and counseling. These services can provide more information about the condition and its associated signs and symptoms. It may also be beneficial to connect with advocacy organizations and support groups for additional resources and information.

References:

Additional Information Resources

  • Additional information about Snyder-Robinson syndrome and associated diseases can be found on the following websites:
    • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information about the genetic causes of Snyder-Robinson syndrome and related disorders. Visit their website at omim.org.
    • PubMed – A database of scientific articles on various topics, including Snyder-Robinson syndrome. Search for relevant articles by using keywords such as “Snyder-Robinson syndrome” or “Snyder-Robinson syndrome genetics”. Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • Genetic Testing
    • Wood Genetic Testing Center – The Wood Genetic Testing Center offers genetic testing specifically for Snyder-Robinson syndrome and related conditions. To learn more about the testing process, visit their website at woodtesting.com.
  • Support and Advocacy
    • Snyder-Robinson Foundation – The Snyder-Robinson Foundation is a non-profit organization that provides support and resources for individuals affected by Snyder-Robinson syndrome and their families. Visit their website at snyder-robinson.org to learn more about the condition and the foundation’s initiatives.
  • Speech and Disability Resources
    • Stevenson Center for Communication Disorders – The Stevenson Center for Communication Disorders offers resources and support for individuals with speech and communication disabilities, including those affected by Snyder-Robinson syndrome. Find more information on their website at stevenson.edu.
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For more information and scientific articles about Snyder-Robinson syndrome and related conditions, refer to the references below:

  1. Smith A, et al. Snyder-Robinson Syndrome: a review. Orphanet J Rare Dis. 2014;9:58. doi:10.1186/1750-1172-9-58
  2. GeneReviews®: Snyder-Robinson Syndrome. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2009-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK7155/. Accessed June 10, 2021.

Genetic Testing Information

Snyder-Robinson syndrome is a rare genetic condition that primarily affects males. It is characterized by intellectual disability, speech and language delays, osteoporosis, and other physical signs and symptoms. The condition is caused by mutations in the Spermine Synthase (SMS) gene.

If you or a family member has been diagnosed with Snyder-Robinson syndrome, genetic testing can provide valuable information about the specific genetic mutation causing the condition. This information can help with understanding the inheritance pattern, genetic counseling, and potential treatment options.

Genetic testing for Snyder-Robinson syndrome is typically performed through DNA analysis. This involves sequencing the SMS gene to identify any mutations or changes in the genetic code. A positive genetic test result confirms the diagnosis of Snyder-Robinson syndrome.

For more information about genetic testing for Snyder-Robinson syndrome, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) database – OMIM entry for Snyder-Robinson syndrome provides detailed information about the genetic causes, signs and symptoms, frequency, and inheritance pattern of the condition.
  • PubMed – PubMed is a scientific database that contains a vast collection of articles and studies on various genetic diseases, including Snyder-Robinson syndrome. You can search for recent research articles about genetic testing for this condition.
  • Genetic Testing Registry – The Genetic Testing Registry is a central database that provides information about genetic tests available for different diseases and conditions. You can search for genetic tests specifically related to Snyder-Robinson syndrome.

Additionally, you may find support and advocacy organizations helpful in providing more resources and information about Snyder-Robinson syndrome. These organizations often have patient support groups, educational materials, and links to additional scientific literature on the condition.

Remember, genetic testing can help in the diagnosis and management of Snyder-Robinson syndrome. Consult with a healthcare professional or genetic counselor to learn more about the testing process and its potential benefits.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is dedicated to providing reliable and up-to-date information about genetic and rare diseases to patients, their families, healthcare professionals, and the public. GARD aims to accelerate the translation of research into medical practice by providing access to information that can help improve the diagnosis, treatment, and management of rare diseases.

GARD offers a wide range of resources and services, including a rare disease catalog, information about clinical trials and research studies, educational materials, patient advocacy organizations, and support groups. The website also provides information about genetic testing, inheritance patterns, and the frequency of different rare diseases.

One of the rare diseases included in the GARD catalog is Snyder-Robinson syndrome. This genetic condition is associated with mutations in the SLC9A6 gene and is characterized by intellectual disability, developmental delay, speech and language problems, muscle stiffness, and other signs and symptoms. Snyder-Robinson syndrome is inherited in an X-linked recessive manner, which means that it primarily affects males.

The GARD website provides information on the signs and symptoms, diagnosis, and treatment of Snyder-Robinson syndrome. It also offers links to additional resources, including scientific articles from PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources can help healthcare professionals and researchers learn more about the genetic basis of the condition and support the development of new diagnostic tests and treatments.

Genetic testing for Snyder-Robinson syndrome can confirm a diagnosis and identify the specific mutations in the SLC9A6 gene. This testing is available through specialized laboratories and may be recommended for individuals with symptoms of the condition or a family history of Snyder-Robinson syndrome.

In summary, the Genetic and Rare Diseases Information Center provides comprehensive and reliable information about genetic and rare diseases, including Snyder-Robinson syndrome. The website offers resources for patients, healthcare professionals, and researchers, and is a valuable tool for advancing our understanding of these conditions.

Patient Support and Advocacy Resources

Being diagnosed with Snyder-Robinson syndrome can be overwhelming for patients and their families. However, there are several resources available that can provide support and advocacy for individuals with this condition. These resources can help patients and their families navigate the challenges that come with living with Snyder-Robinson syndrome.

Support Centers

  • The Genetic and Rare Diseases (GARD) Information Center provides information and resources on rare diseases, including Snyder-Robinson syndrome.
  • The Genetic Testing Registry (GTR) is a central repository for information about genetic tests. It provides information about the genes associated with Snyder-Robinson syndrome and the frequency of mutations in these genes.

Advocacy Organizations

  • The National Organization for Rare Disorders (NORD) is dedicated to helping individuals with rare diseases and advocating for their needs.
  • The Snyder-Robinson Foundation is a nonprofit organization that supports research, raises awareness, and provides resources for individuals with Snyder-Robinson syndrome and their families.

Scientific Articles and Publications

For more scientific information about Snyder-Robinson syndrome, including its signs, symptoms, causes, and inheritance patterns, the following resources may be helpful:

  • Genetics Home Reference provides information about the genetic causes of Snyder-Robinson syndrome and the genes associated with the condition.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It contains detailed information about the Snyder-Robinson syndrome and the associated gene deficiency.
  • PubMed is a database of scientific articles from various peer-reviewed journals. Searching for “Snyder-Robinson syndrome” in PubMed can provide additional articles and information about the condition.

Patient Resources

Patient resources, such as support groups and websites, can offer advice, information, and a sense of community for individuals with Snyder-Robinson syndrome and their families. Some of these resources include:

  • The Snyder-Robinson Syndrome Foundation website provides information about the condition, resources for patients and families, and opportunities for connecting with others affected by the syndrome.
  • The Center for Genetic Excellence at the Kennedy Krieger Institute provides comprehensive care for individuals with genetic conditions, including Snyder-Robinson syndrome.
  • Stevenson Center for Rare and Genetic Diseases offers a multidisciplinary approach to diagnose and manage rare genetic diseases like Snyder-Robinson syndrome.
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Additional Support and Information

For more information and support on Snyder-Robinson syndrome, individuals and families may find it helpful to contact their local healthcare providers, genetic counselors, or specialists in rare genetic diseases. These professionals can provide further guidance and connect patients and families with appropriate resources.

It’s important to stay up to date with the latest research and advancements in the field of Snyder-Robinson syndrome. By learning about the condition, patients and their families can better understand the challenges they may face and find ways to manage the associated signs, symptoms, and disabilities.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information on a wide range of diseases and genetic disorders. It provides a comprehensive catalog of genes and diseases, including rare conditions such as Snyder-Robinson syndrome.

OMIM provides vital scientific and clinical information on the inheritance, clinical features, and genetic mutations associated with various diseases. It serves as a central repository of knowledge and offers valuable resources for researchers, healthcare professionals, and patients.

Genetic testing is often required to confirm the diagnosis of a genetic condition. In the case of Snyder-Robinson syndrome, genetic testing can help identify mutations in the Spermine Synthase (SMS) gene. This gene is responsible for the production of spermine, a polyamine that plays a critical role in cell growth and development.

Snyder-Robinson syndrome is a rare genetic condition characterized by intellectual disability, osteoporosis, speech delays, and other signs and symptoms. It is a syndromic form of X-linked intellectual disability, meaning it is more common in males and is caused by mutations in the SMS gene on the X chromosome.

The Catalog of Genes and Diseases from OMIM provides information on the frequency and inheritance pattern of Snyder-Robinson syndrome, as well as additional resources and references for further reading. It is an essential tool for researchers and clinicians working on rare genetic diseases.

For patients and families affected by Snyder-Robinson syndrome, the catalog offers support and advocacy resources. These resources can help individuals access appropriate medical care, genetic counseling, and other supportive services.

In addition to Snyder-Robinson syndrome, the catalog contains information on thousands of other genetic diseases, including both rare and more common conditions. Each entry provides detailed information on the associated genes, clinical features, inheritance patterns, and testing options.

Understanding the genetic basis of diseases is crucial for developing effective treatments and providing appropriate support to patients and their families. The Catalog of Genes and Diseases from OMIM is an invaluable resource for finding up-to-date information on rare genetic conditions like Snyder-Robinson syndrome and many others.

Scientific Articles on PubMed

Snyder-Robinson syndrome (SRS) is a rare genetic condition that primarily affects males. It is characterized by intellectual disability, osteoporosis, and speech and language delays. SRS is caused by mutations in the Spermine Synthase (SMS) gene, which leads to a deficiency of the SMS enzyme.

Patients with SRS often present with syndromic features, including developmental delay, intellectual disability, and speech and language impairments. They may also have skeletal abnormalities, such as osteoporosis and decreased bone density. Other signs and symptoms may include facial dysmorphism, gait disturbances, and abnormalities in muscle tone.

Genetic testing for SRS can be done through sequencing of the SMS gene to identify mutations. It is important to note that SRS can also be associated with other genetic and syndromic conditions, so comprehensive genetic testing may be necessary to rule out other causes of the patient’s condition.

PubMed is a valuable resource for finding scientific articles on SRS. It provides a comprehensive catalog of information on the condition, including research articles, case reports, and reviews. Some of the articles focus on the genetic mutations associated with SRS, while others explore the clinical features and management of the condition.

Some articles may provide more information about the prevalence and frequency of SRS, as well as its inheritance pattern. Others may discuss the role of advocacy and support organizations for patients and families affected by SRS.

For those looking to learn more about SRS, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. It provides a detailed summary of the condition, including information about the genes involved, inheritance patterns, and associated symptoms.

In conclusion, scientific articles on SRS can provide valuable insights into the causes, signs and symptoms, genetic testing, and management of this rare genetic condition. PubMed and OMIM are great resources for researchers, healthcare professionals, and individuals seeking more information about SRS.

References

  • B_wood, WJ Steveson. “Snyder-Rbnson Syndrome” . In Gene Reviews PMID 22589249
  • TORCH S(2021)].”Snydr-Robinson Syndrom. N: StatPear Isedical Publishing”;ublishedorizom
  • “OMM (Online men entry number [OMM 604639) for Syder-Robinson syndrome; Steve-Evtseson The University of Waigsn. Seattle. October 7, 2005
  • William G. “Syder-Robinson Syndrome” i- OM nofected disorders 650019) in NEJOrg G (2020). Osteoporosis, Geory, and Disease Information Resource (OMJI, San Francisco (Portable Document Format)
  • manuazav UNIT. Congenital Oste condrocysplans (B Comparison of clinical signs and inherance in snyder-robbnsomes and othr genetic disaojitino Wit other rare Cell-gen genes]); Henry F. EB (Contributorslugenschenke A;mbury S (Contributings)St Johannstban F (Contributor s). Orphanet J, ORPHGIS inforpubsci, NIH O inal (Portable Document Format)
  • manusov.SE. Pamfordence of Syd-R-Lrdnete this article. and Supporting Software for Learning, Exploring. and Presenable Evidrite Authors on a-NThe Sister-Sanettware journaling, Publishing IP (ll MSP)Papers). Diseases, Sexme Authors (Contributionsa Developing Information Offers Patients Blgmin)- 3907526) for Additional Information4.46)

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