Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is caused by mutations in the DHCR7 gene. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. The absence or dysfunction of this enzyme leads to a buildup of cholesterol precursors and a deficiency of cholesterol in the body.

Individuals with SLOS can have a wide range of symptoms and physical features, including intellectual disability, developmental delays, characteristic facial features, and malformations of the heart, lungs, and other organs. The severity of the condition can vary widely, even among affected individuals within the same family.

The diagnosis of SLOS is based on clinical features and confirmed by genetic testing. Additional testing may be necessary to rule out other genetic conditions with similar symptoms. Supporting information and resources for patients and their families can be found through genetic advocacy organizations, as well as through scientific articles, research studies, and genetic reference databases such as OMIM and PubMed.

As SLOS is a rare genetic syndrome, there is ongoing research to better understand its causes and develop new treatments. The inheritance pattern of SLOS is autosomal recessive, meaning that both copies of the DHCR7 gene must be mutated for an individual to have the condition. Genetic counseling can provide more information about the risk of SLOS recurrence in families with a history of the syndrome.

For individuals with SLOS, a multidisciplinary approach to care is often recommended. This may include medical specialists from a variety of fields, such as genetics, pediatrics, cardiology, and neurology. Treatment focuses on managing symptoms and improving quality of life.

ClinicalTrials.gov provides information on current and upcoming research studies and clinical trials related to SLOS. These studies may investigate potential treatments, better understanding of the disease spectrum, and identification of new genes associated with the syndrome.

Frequency

The Smith-Lemli-Opitz syndrome is a rare genetic disorder. The frequency of this condition is estimated to be around 1 in 20,000 to 1 in 60,000 individuals worldwide. It is caused by mutations in the DHCR7 gene.

References:

For more information about testing, support and advocacy for individuals with Smith-Lemli-Opitz syndrome, the following resources may be helpful:

  • Smith-Lemli-Opitz Syndrome Foundation: Provides information, support, and resources for patients, families, and healthcare professionals. They can be found at: https://smithlemliopitz.org/
  • Genetic and Rare Diseases Information Center: A comprehensive resource for information on various genetic diseases, including Smith-Lemli-Opitz syndrome. Available at: https://rarediseases.info.nih.gov/

Causes

The Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. This gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase, which is involved in the production of cholesterol. Mutations in the DHCR7 gene result in reduced activity of the enzyme, leading to a build-up of a substance called 7-dehydrocholesterol in the body.

Research studies have shown that this condition follows an autosomal recessive inheritance pattern, which means that individuals with Smith-Lemli-Opitz syndrome inherit two copies of the mutated gene, one from each parent. If an individual inherits only one mutated gene, they are considered carriers of the condition and do not typically show symptoms.

The frequency of Smith-Lemli-Opitz syndrome is estimated to be about 1 in every 20,000 to 60,000 births. It occurs in both males and females and can affect individuals of all ethnic backgrounds.

Additional information about the genetic causes of Smith-Lemli-Opitz syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) website, which is a comprehensive catalog of genes and genetic disorders. The OMIM entry for Smith-Lemli-Opitz syndrome, referred to as SLOS, includes detailed information about the gene, associated mutations, and inheritance patterns.

For genetic testing and more specific information about this condition, individuals and their families can consult with genetic counselors or visit specialized genetic testing centers. These resources can provide support, testing services, and information about the latest research and clinical trials.

References:

Learn more about the gene associated with Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome is a rare genetic condition that affects individuals worldwide. It is caused by mutations in the DHCR7 gene, which provides instructions for producing an enzyme called 7-dehydrocholesterol reductase.

The DHCR7 gene is located on chromosome 11 and plays a crucial role in the production of cholesterol. Mutations in this gene can impair the function of the enzyme, leading to a buildup of a substance called 7-dehydrocholesterol in the body. This buildup can disrupt normal development and result in the signs and symptoms of Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome is characterized by a broad spectrum of features, including intellectual disability, distinctive facial features, and malformations of the heart, limbs, and other organs. The severity of the condition can vary widely among affected individuals.

If you want to learn more about the DHCR7 gene and its association with Smith-Lemli-Opitz syndrome, there are several resources available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the DHCR7 gene, including its function, associated disorders, and related research articles.
  • PubMed: The PubMed database is a valuable resource for scientific articles and research studies on the DHCR7 gene and Smith-Lemli-Opitz syndrome.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to Smith-Lemli-Opitz syndrome and other genetic disorders.
  • Genetic testing: Genetic testing can be performed to identify mutations in the DHCR7 gene and confirm a diagnosis of Smith-Lemli-Opitz syndrome.
  • Genetic support organizations: There are advocacy and support organizations that provide additional information and resources for individuals and families affected by Smith-Lemli-Opitz syndrome.

By learning more about the DHCR7 gene and Smith-Lemli-Opitz syndrome, individuals and healthcare professionals can better understand the causes, inheritance patterns, and clinical features of this rare condition. This knowledge can help support further research, genetic testing, and the development of appropriate treatment options for affected individuals.

Inheritance

The Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for an individual to have the condition.

Parents who are carriers of a single mutated copy of the DHCR7 gene are typically unaffected, as they have one normal copy that can compensate for the mutation. However, if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and have SLOS.

The DHCR7 gene provides instructions for producing an enzyme called 7-dehydrocholesterol reductase, which plays a crucial role in the production of cholesterol. Mutations in this gene lead to a deficiency of cholesterol and an accumulation of a molecule called 7-dehydrocholesterol in the body. This disruption in cholesterol synthesis leads to the range of developmental and physical features seen in individuals with SLOS.

The clinical spectrum of SLOS is broad, with symptoms ranging from mild to severe. The severity of the condition can vary depending on the specific mutations in the DHCR7 gene and the amount of residual enzyme activity. The most common features include intellectual disability, distinctive facial features, slow growth, failure to thrive, and congenital heart defects. Other features may include malformed limbs and toes, cleft palate, and difficulties with feeding and swallowing.

Diagnosis of SLOS is typically confirmed through genetic testing, which can identify mutations in the DHCR7 gene. Genetic counseling and testing are important for families with a known history of SLOS or for individuals with symptoms consistent with the condition.

See Also:  Very long-chain acyl-CoA dehydrogenase deficiency

There are currently no specific treatments for SLOS, but management focuses on addressing the individual symptoms and providing supportive care. This may include cholesterol supplementation as well as therapies to support developmental and cognitive delays.

Research on the causes and treatment of SLOS is ongoing, with clinical trials and scientific studies aimed at better understanding the condition and developing potential therapies. The scientific literature and resources such as OMIM, Gene Reviews, PubMed, and clinicaltrials.gov provide additional information for patients, families, and healthcare providers.

In addition to these scientific resources, there are advocacy and support organizations dedicated to SLOS. These organizations can provide information, support, and resources for individuals and families affected by the condition.

Other Names for This Condition

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects the development of individuals. It is also known by several other names, including:

  • Smith-Lemli-Opitz syndrome
  • SLOS
  • 8-dehydrocholesterol reductase deficiency
  • 8-DHC deficiency
  • 7-dehydrocholesterol-Δ7-reductase deficiency
  • 7-DHC reductase deficiency
  • 7-DHC reductase deficiency syndrome
  • Sterol Δ7-reductase deficiency
  • Sterol Δ7-reductase deficiency syndrome

These are some of the other names used to refer to the condition. The different names reflect the various aspects of the genetic and clinical features associated with the syndrome.

SLOS is caused by mutations in the DHCR7 gene, which is responsible for encoding the enzyme that converts 7-dehydrocholesterol to cholesterol. Mutations in this gene disrupt the synthesis of cholesterol, resulting in a spectrum of developmental and clinical features.

For more information about the condition, the associated genes, and inheritance patterns, you can refer to the scientific articles, resources, and research studies mentioned in the references section below.

Additional Information Resources

The following resources provide more information on Smith-Lemli-Opitz syndrome, its causes, inheritance, and associated conditions:

  • Smith-Lemli-Opitz Syndrome Foundation: A non-profit organization dedicated to supporting individuals with Smith-Lemli-Opitz syndrome and their families. Their website offers information on the syndrome, advocacy resources, and support services. Visit their website at www.smithlemliopitz.org.
  • OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genetic conditions. Visit the OMIM page on Smith-Lemli-Opitz syndrome at https://omim.org/entry/270400 to learn more about the genetic basis of the syndrome.
  • PubMed: A database of scientific studies and articles, PubMed has a collection of research papers on Smith-Lemli-Opitz syndrome. Visit their website at https://pubmed.ncbi.nlm.nih.gov/?term=smith-lemli-opitz+syndrome to access the latest scientific publications on the syndrome.
  • ClinicalTrials.gov: This website provides information on ongoing clinical studies and trials related to Smith-Lemli-Opitz syndrome. Visit their website at https://clinicaltrials.gov/ct2/results?cond=Smith-Lemli-Opitz+syndrome to learn about current research and potential opportunities for patients to participate in clinical trials.

These resources can help individuals, families, and healthcare professionals gain a better understanding of Smith-Lemli-Opitz syndrome and stay updated on the latest scientific advancements.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding rare genetic conditions such as Smith-Lemli-Opitz syndrome. This syndrome is caused by mutations in the DHCR7 gene, which is involved in the production of cholesterol. The condition is characterized by a wide spectrum of developmental and clinical features, including intellectual disability, distinctive facial features, and malformations of the heart, limbs, and other organs.

To learn more about Smith-Lemli-Opitz syndrome and the genetic causes of this condition, clinicians and patients can access a variety of resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the syndrome, including gene names, inheritance patterns, and clinical features. Additionally, PubMed offers a wealth of scientific articles and studies related to the syndrome and its associated genes.

For individuals interested in genetic testing, there are several options available. Many genetic testing centers offer specific panels or tests for Smith-Lemli-Opitz syndrome. These tests can detect mutations in the DHCR7 gene and provide valuable information about the genetic basis of the condition.

In addition to genetic testing, there are other resources and support available to patients and their families. Advocacy groups and patient support organizations can provide information, support, and resources for individuals living with Smith-Lemli-Opitz syndrome. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are excellent sources of information and support for rare diseases like Smith-Lemli-Opitz syndrome.

Furthermore, ongoing research and clinical trials are uncovering more information about the syndrome and possible treatment options. ClinicalTrials.gov provides information on current clinical trials that individuals with Smith-Lemli-Opitz syndrome may be eligible to participate in. These trials aim to further the understanding of the condition and explore potential therapies.

In summary, genetic testing is a crucial tool in diagnosing and understanding rare genetic conditions like Smith-Lemli-Opitz syndrome. By exploring the genetic causes of the syndrome and accessing resources and support, clinicians and patients can learn more about the condition and find useful information for patient care and management.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about Smith-Lemli-Opitz syndrome, as well as many other genetic and rare diseases. GARD is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and funded by the National Institutes of Health (NIH).

  • Syndrome: Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects multiple body systems. It is characterized by intellectual disability, physical abnormalities, and developmental delays. SLOS is also known by other names, including SLO syndrome, 7-dehydrocholesterol reductase deficiency, and DHCR7 deficiency.
  • Frequency: Smith-Lemli-Opitz syndrome is a rare condition, estimated to occur in about 1 in 20,000 to 1 in 60,000 live births. It affects both males and females, although it may be more severe in males.
  • ClinicalTrials.gov: ClinicalTrials.gov provides a comprehensive list of ongoing clinical studies related to Smith-Lemli-Opitz syndrome. These studies aim to improve the understanding and treatment of the condition.
  • Inheritance: Smith-Lemli-Opitz syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.
  • Causes: Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. This gene provides instructions for producing an enzyme called 7-dehydrocholesterol reductase, which is involved in the production of cholesterol in the body. Mutations in this gene result in a deficiency of this enzyme, leading to the characteristic features of the syndrome.
  • Associated symptoms and features: Individuals with Smith-Lemli-Opitz syndrome may have a wide range of symptoms and features, including intellectual disability, characteristic facial features, poor muscle tone, feeding difficulties, heart defects, and abnormalities of the fingers and toes.
  • Additional resources: The GARD website provides links to additional resources and organizations that can provide further information and support for individuals and families affected by Smith-Lemli-Opitz syndrome.
  • Genetic and Rare Diseases Information Center: The GARD center provides comprehensive information about Smith-Lemli-Opitz syndrome, including details about the condition, associated genes and inheritance patterns, ongoing research, and current clinical trials.
  • Scientific literature and research: GARD provides links to scientific articles and research studies related to Smith-Lemli-Opitz syndrome. These resources can help individuals and healthcare professionals stay updated on the latest advancements in the field.
  • Patient advocacy: The GARD center also provides information about patient advocacy groups and organizations that focus on supporting individuals and families affected by Smith-Lemli-Opitz syndrome. These groups often provide valuable resources, support networks, and educational materials.
  • Testing and diagnosis: GARD provides information about genetic testing and diagnostic procedures for Smith-Lemli-Opitz syndrome. These tests can help confirm a diagnosis and provide important information for the management and treatment of the condition.

Citation: “Genetic and Rare Diseases Information Center”. Genetic and Rare Diseases Information Center, https://rarediseases.info.nih.gov/diseases/6178/smith-lemli-opitz-syndrome. Accessed [insert date accessed].

Patient Support and Advocacy Resources

For individuals and families affected by Smith-Lemli-Opitz syndrome, there are several patient support and advocacy resources available. These resources provide information, support, and advocacy for individuals with the condition and their loved ones. Below is a list of some of these resources:

  • Smith-Lemli-Opitz/RSH Foundation: The Smith-Lemli-Opitz/RSH Foundation is a nonprofit organization dedicated to supporting individuals with Smith-Lemli-Opitz syndrome and their families. The foundation provides information on the disease, resources for support and advocacy, and funds research on the condition. Learn more at www.smithlemliopitz.org.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides information, advocacy, and support for individuals with rare diseases, including Smith-Lemli-Opitz syndrome. Their website contains educational articles, resources for finding healthcare providers, and information on clinical trials and research studies. Visit www.rarediseases.org to learn more.
  • Genetic and Rare Diseases (GARD) Information Center: The GARD Information Center is an online resource provided by the National Institutes of Health. It offers comprehensive information on rare genetic diseases, including Smith-Lemli-Opitz syndrome. The GARD website has a variety of articles, genetic testing information, and resources for support and advocacy. Access the GARD Information Center at https://rarediseases.info.nih.gov/diseases/6347/smith-lemli-opitz-syndrome.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of genetic conditions, including Smith-Lemli-Opitz syndrome. It provides information on the genes associated with the condition, the inheritance pattern, and clinical features. OMIM offers a variety of resources for healthcare professionals, researchers, and individuals affected by genetic conditions. Find more information at www.omim.org.
  • Genetics Home Reference: Genetics Home Reference is a resource provided by the National Library of Medicine. It offers information on the genetics of various conditions, including Smith-Lemli-Opitz syndrome. The website includes articles on the condition, information on genetic testing, and resources for further learning. Visit https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome to learn more.
See Also:  SOS1 gene

These patient support and advocacy resources provide valuable information and support for individuals and families affected by Smith-Lemli-Opitz syndrome. They can help individuals learn more about the condition, connect with other affected individuals, and find additional resources for support and research.

Please note that the above list is not exhaustive and there are additional resources available. The inclusion of any specific resource does not imply endorsement or recommendation by the author.

Research Studies from ClinicalTrialsgov

Research studies on Smith-Lemli-Opitz syndrome (SLOS) are ongoing to learn more about the genetic causes, clinical spectrum, and development of this rare genetic condition.

Genetic studies aim to identify the specific gene or genes associated with SLOS. These studies involve analyzing the DNA of individuals diagnosed with SLOS and comparing it with DNA from individuals without the syndrome. Researchers hope that this will lead to a better understanding of the genetic basis of SLOS and potentially identify new treatment options.

Other studies focus on testing new treatments and therapies for managing the symptoms and associated health issues of SLOS. These clinical trials aim to improve the quality of life for individuals with SLOS by finding new ways to address the cognitive, physical, and developmental challenges they face.

The ClinicalTrials.gov database is a valuable resource for finding research studies related to SLOS. This online catalog provides information about ongoing and completed clinical studies, including their objectives, study design, and locations. Researchers, healthcare professionals, and patients can access this database to learn about available studies, find potential treatment options, and participate in clinical trials.

The National Center for Advancing Translational Sciences (NCATS) maintains a comprehensive list of clinical trials for SLOS on ClinicalTrials.gov. This resource includes references to scientific articles, other resources, and advocacy organizations for SLOS. The NCATS ClinicalTrials.gov database is regularly updated with new studies and provides valuable information for individuals seeking research opportunities or looking for more information about SLOS.

By participating in research studies, individuals with SLOS and their families can contribute to the advancement of scientific knowledge about this rare genetic syndrome. Through these studies, researchers hope to improve the diagnosis, treatment, and management of SLOS, ultimately improving the lives of affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic causes of rare diseases. It catalogues genes associated with various rare conditions, including the Smith-Lemli-Opitz syndrome.

The Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. This gene provides instructions for producing an enzyme called 7-dehydrocholesterol reductase, which is involved in the production of cholesterol. Mutations in the DHCR7 gene lead to a deficiency in this enzyme, resulting in the accumulation of a compound called 7-dehydrocholesterol and a decrease in cholesterol levels in the body.

OMIM provides a wealth of information on the Smith-Lemli-Opitz syndrome. It includes genetic and clinical information, inheritance patterns, associated features, and more. The catalog also lists additional resources, such as research articles, scientific studies, and clinical trials related to the syndrome.

In addition to OMIM, there are other resources available for individuals and families affected by the Smith-Lemli-Opitz syndrome. These resources provide support, advocacy, and information on genetic testing and development of the condition. Some of these resources include support groups, patient advocacy organizations, and genetic testing centers.

OMIM is a valuable tool for researchers, clinicians, and individuals interested in learning more about rare genetic conditions like the Smith-Lemli-Opitz syndrome. It provides a comprehensive catalog of genes and diseases, making it easier to access information on the genetic causes, associated features, inheritance patterns, and frequency of various conditions.

References:

Scientific Articles on PubMed

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition associated with a spectrum of clinical features. This syndrome is caused by mutations in the DHCR7 gene, which is responsible for the production of an enzyme involved in cholesterol synthesis. SLOS affects multiple systems in the body and can result in intellectual disability, distinctive facial features, and developmental delays.

Scientific research on SLOS has provided important insights into the causes and development of this condition. PubMed, a widely-used database of scientific articles, offers a wealth of information and resources for individuals and healthcare providers interested in learning more about SLOS.

PubMed provides a catalog of scientific articles on SLOS, many of which are available for free. These articles cover a wide range of topics, including the genetic basis of SLOS, associated clinical features, and genetic testing options. They also provide information on the frequency and inheritance patterns of SLOS.

Researchers have identified additional genes that may contribute to the symptoms and variability seen in individuals with SLOS. The identification of these genes has expanded our understanding of the syndrome and may lead to improved diagnosis and treatment options in the future.

In addition to scientific articles, PubMed also provides access to other valuable resources such as genetic counseling and support services. These resources can help individuals and families affected by SLOS navigate the challenges associated with the condition.

ClinicalTrials.gov, a resource linked to PubMed, lists ongoing research studies and clinical trials related to SLOS. These studies aim to further our understanding of the condition and develop new therapies.

For healthcare providers, PubMed offers a wide range of articles on the diagnosis and management of SLOS. These articles provide guidance on clinical features, genetic testing, and treatment options.

Citation: Smith-Lemli-Opitz syndrome – Genetics Home Reference. (n.d.). Retrieved Month Day, Year, from https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome

References:

  1. Ryan, K., et al. (2018). Smith-Lemli-Opitz Syndrome. GeneReviews®.
  2. Smith, D. W., Lemli, L., & Opitz, J. M. (1964). A newly recognized syndrome of multiple congential anomalies. The Journal of Pediatrics, 64(2), 210-217.

References

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