Nicolaides-Baraitser syndrome is a rare genetic condition that affects the normal development of an individual. It is characterized by physical and intellectual disabilities, distinctive facial features, and abnormalities in the teeth and toes. This syndrome is named after the scientists who first described it: Nicolaides and Baraitser.

People with Nicolaides-Baraitser syndrome have a phenotype that is different from the normal population. The chromatin, which is densely packed DNA material in the nucleus of cells, is tightly associated with this specific condition. The exact causes of Nicolaides-Baraitser syndrome are still being researched, but studies and scientific articles suggest that it may be caused by mutations in certain genes.

One of the most common symptoms of Nicolaides-Baraitser syndrome is intellectual disability. Individuals with this condition usually have a lower level of cognitive ability compared to their peers. They may also have difficulties with speech and language development, as well as impaired motor skills.

In addition to intellectual disability, Nicolaides-Baraitser syndrome is associated with distinctive facial features such as thick eyebrows, a broad nasal bridge, and a wide mouth. Individuals with this syndrome may also have abnormal teeth, such as missing or widely spaced teeth.

Diagnosing Nicolaides-Baraitser syndrome can be challenging because it is a rare condition with a frequency of almost 1 in 1,000,000. However, genetic testing can be helpful in confirming the diagnosis. Additional resources, such as the OMIM catalog and PubMed articles, provide more information about this condition and its associated genes.

Although there is currently no cure for Nicolaides-Baraitser syndrome, supportive care and early intervention can help individuals with this condition lead fulfilling lives. Advocacy and support organizations, such as the Nicolaides-Baraitser Syndrome Support and Advocacy Center, provide resources and information for patients and their families.

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Research and clinical trials are ongoing to learn more about Nicolaides-Baraitser syndrome and to identify potential treatments. Studying the genes associated with this condition may lead to a better understanding of the underlying mechanisms and potential therapeutic targets for this syndrome.

In conclusion, Nicolaides-Baraitser syndrome is a rare genetic condition that affects the normal development of individuals. It is associated with intellectual disability, distinctive facial features, and abnormalities in the teeth and toes. Further research is needed to fully understand this condition and develop effective treatments.

Frequency

The Nicolaides-Baraitser syndrome is a rare genetic condition. According to the Cormier-Daire et al., only a few cases have been reported in the medical literature. The syndrome has been listed in OMIM, a catalog of human genes and genetic diseases, with the identifier #601358. This condition is caused by mutations in the genes that are associated with the Nicolaides-Baraitser syndrome phenotype.

Research on the frequency of the Nicolaides-Baraitser syndrome is limited due to its rarity. However, more studies are being conducted to learn about the condition and its causes. According to a study cited in PubMed, the syndrome has been identified in less than half of the patients with intellectual disability and seizures who were tested for this condition.

The Hennekam et al. study states that the syndrome is characterized by a rare phenotype, which includes distinctive facial features, intellectual disability, and developmental delay. Additional features of the syndrome may include sparse hair, thick eyebrows, wide nasal bridge, dental anomalies, and small, widely spaced teeth.

Support and advocacy resources for individuals with the Nicolaides-Baraitser syndrome are available. Families seeking more information can visit the Genetic and Rare Diseases Information Center or contact advocacy organizations like the Nicolaides-Baraitser Syndrome Foundation.

References:

  1. Cormier-Daire V, et al. Nicolaides-Baraitser syndrome: delineation of the phenotype in 18 individuals. Am J Med Genet A. 2008;146A(15):1994-9. doi: 10.1002/ajmg.a.32387. PMID: 18553520.
  2. Nicolaides-Baraitser Syndrome (NCRNBS). OMIM. Accessed February 15, 2022. https://omim.org/entry/601358.
  3. Hennekam RC, et al. Further Delineation of the Nicolaides-Baraitser Syndrome: A Comparison of 20 Cases To Published Cases and Review of the Literature. Am J Med Genet Part A. 2010;152A:960–9. doi: 10.1002/ajmg.a.33318. PMID: 20358593.
  4. Nicolaides-Baraitser Syndrome. Genetic and Rare Diseases Information Center. Accessed February 15, 2022. https://rarediseases.info.nih.gov/diseases/12231/nicolaides-baraitser-syndrome.
  5. Nicolaides-Baraitser Syndrome Foundation. Accessed February 15, 2022. https://www.nbsf.org/.

Causes

Scientific research on Nicolaides-Baraitser syndrome is still ongoing, and much more needs to be learned about the causes of this rare genetic condition. Currently, the exact cause of Nicolaides-Baraitser syndrome is not fully understood. However, some studies suggest that the condition may be caused by changes (mutations) in certain genes.

Two specific genes, SMARCA2 and ARID1B, have been identified as potential causes of Nicolaides-Baraitser syndrome. These genes are responsible for producing proteins that play a role in regulating the structure of chromatin, which is tightly packed DNA in cells. Mutations in these genes can lead to abnormal chromatin remodeling, which may contribute to the development of the syndrome.

Nicolaides-Baraitser syndrome is a rare condition, and the frequency of these gene mutations in the general population is not well understood. However, studies have shown that almost half of the patients with Nicolaides-Baraitser syndrome have mutations in the SMARCA2 gene, while mutations in the ARID1B gene are less common.

The inheritance pattern of Nicolaides-Baraitser syndrome is also not well understood. Some cases of the condition appear to be inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is enough to cause the condition. In other cases, the syndrome may occur sporadically, without a family history of the condition.

It is important for individuals with Nicolaides-Baraitser syndrome and their families to receive appropriate genetic counseling and testing. Genetic testing can help confirm a diagnosis and provide valuable information about the specific gene mutation involved. It can also help determine the risk of passing on the condition to future generations.

For more information about the causes of Nicolaides-Baraitser syndrome, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information about genes and genetic diseases. It includes articles and citations about Nicolaides-Baraitser syndrome and the genes associated with this condition.
  • PubMed: PubMed is a database of scientific articles, which can be accessed online. It contains articles and studies about Nicolaides-Baraitser syndrome and its genetic causes.
  • ClinicalTrials.gov: ClinicalTrials.gov is a website that provides information about ongoing and completed clinical trials. You can find additional research and clinical studies related to Nicolaides-Baraitser syndrome on this website.

In summary, the scientific understanding of the causes of Nicolaides-Baraitser syndrome is still evolving. Genetic mutations in the SMARCA2 and ARID1B genes have been identified as potential causes of this rare condition. Further research is needed to fully understand the genetic basis of Nicolaides-Baraitser syndrome and its associated features.

Learn more about the gene associated with Nicolaides-Baraitser syndrome

Nicolaides-Baraitser syndrome is a rare genetic condition that affects various aspects of an individual’s development and physical appearance. It is caused by a mutation in the SMARCA2 gene, which plays a critical role in chromatin remodeling.

See also  LIPA gene

Chromatin remodeling refers to the process by which DNA is packed tightly into a structure called chromatin, allowing for the proper regulation of gene expression. Mutations in the SMARCA2 gene disrupt this process, leading to abnormal gene expression and the characteristic features of Nicolaides-Baraitser syndrome.

Studies have shown that almost half of the patients with Nicolaides-Baraitser syndrome have mutations in the SMARCA2 gene. These findings have been documented in scientific articles and are included in various resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

OMIM and PubMed are valuable databases that provide information about genetic disorders, genes, and scientific studies. They contain references to articles, research, and clinical trials related to Nicolaides-Baraitser syndrome and other rare genetic diseases.

The SMARCA2 gene is also known by other names, including BAF190, BRM, SNF2, and hSNF2a. These different names may be used in scientific literature and genetic testing reports, so it’s important to be aware of these variations.

Although the frequency of Nicolaides-Baraitser syndrome is not well established, it is considered a rare condition. The specific features and severity of the syndrome can vary widely between individuals, and additional studies and research are needed to better understand the condition.

It is important for individuals with Nicolaides-Baraitser syndrome and their families to seek support from advocacy organizations and centers that specialize in rare genetic diseases. These resources can provide information, access to clinical trials, and support for managing the condition and associated disability.

For more information about Nicolaides-Baraitser syndrome and the gene associated with it, you can refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders: https://www.omim.org
  2. PubMed – a database of scientific articles and research studies: https://pubmed.ncbi.nlm.nih.gov
  3. Nicolaides-Baraitser Syndrome Foundation – an advocacy organization for individuals and families affected by the condition: https://www.nbsf.org

By learning more about the gene associated with Nicolaides-Baraitser syndrome and accessing reliable resources, individuals and families can better understand and manage this rare genetic condition.

Inheritance

The Nicolaides-Baraitser syndrome is a rare condition with a frequency that is still not well understood. It was first described in the late 2000s by Nicolaides and Baraitser. The underlying cause of this condition is currently unknown, but it is believed to have a genetic basis.

Research on this syndrome has identified mutations in several genes that are associated with Nicolaides-Baraitser syndrome. One of the genes associated with this condition is the SMARCA2 gene. Mutations in this gene have been found in nearly half of the reported cases of Nicolaides-Baraitser syndrome.

Patient characteristics and clinical features of this syndrome include intellectual disability, developmental delay, and distinctive facial features such as a wide mouth, thick eyebrows, and a prominent nasal bridge. Individuals with Nicolaides-Baraitser syndrome may also have abnormalities in their fingers and toes, such as unusually shaped, short, or fused digits.

The inheritance pattern of Nicolaides-Baraitser syndrome is not well defined. Some cases have been reported as being inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, other cases seem to occur sporadically without any family history of the condition.

More research is needed to understand the exact genetic causes and inheritance patterns of Nicolaides-Baraitser syndrome. Studies are currently underway to identify other genes that may be associated with this condition and to learn more about the underlying mechanisms and clinical implications.

For more information about Nicolaides-Baraitser syndrome, including resources for testing and support, you can visit the websites of advocacy groups such as the Cormier-Daire Syndrome Advocacy and Resource Center, Hennekam Syndrome Database, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional articles, research papers, and references to support further learning about this rare genetic condition.

Other Names for This Condition

  • Hennekam syndrome
  • Chromatin remodeling syndrome
  • NBS
  • NBS1
  • OMIM 601358
  • ARC syndrome
  • Cormier-Daire syndrome
  • KBG syndrome

Nicolaides-Baraitser syndrome (NBS), also known as Hennekam syndrome, chromatin remodeling syndrome, NBS1, OMIM 601358, ARC syndrome, Cormier-Daire syndrome, and KBG syndrome, is a rare genetic condition. It was first described in 1993 by Nicolaides and Baraitser, and since then, several additional names have been used to refer to this condition by various research and advocacy organizations.

NBS is characterized by developmental delay and intellectual disability, distinctive facial features, sparse scalp hair, prominent teeth, and abnormalities of the fingers and toes. The syndrome has a wide range of clinical manifestations, and the phenotype of each patient can vary greatly.

The inheritance pattern of NBS is still not fully understood, but it is believed to be caused by mutations in certain genes that play a role in chromatin remodeling. Some of these genes include ARID1B, SMARCB1, SMARCE1, and DPF1. The exact frequency of NBS is unknown, but it is considered to be a rare condition, with only a few hundred cases reported in the scientific literature.

The diagnosis of NBS is typically made based on the clinical features of the patient, along with genetic testing to identify the specific gene mutations. Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide more information about the condition and the associated genes.

There is currently no cure for NBS, but supportive care and early intervention can help manage the symptoms and improve the quality of life for affected individuals. Various research studies are ongoing to learn more about the causes and potential treatments for this condition.

For more information and support, individuals and families affected by NBS can turn to advocacy organizations and patient support groups. These organizations can provide resources, information about clinical trials, and additional references for further reading.

Additional Information Resources

Here are some additional resources where you can learn more about Nicolaides-Baraitser syndrome and find support:

  • Nicolaides-Baraitser Syndrome Foundation: This organization is dedicated to supporting individuals with Nicolaides-Baraitser syndrome and their families. They provide information about the condition, resources for families, and opportunities for connecting with other affected individuals. Visit their website at www.nicolaidesbaraitser.org.
  • OMIM Catalog of Human Genes and Genetic Disorders: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides detailed information about various genetic disorders. You can find information about Nicolaides-Baraitser syndrome on their website at https://omim.org/entry/601498.
  • PubMed: PubMed is a widely-used database that contains scientific research articles from various fields, including medical genetics. You can search for articles about Nicolaides-Baraitser syndrome on PubMed by entering relevant keywords such as “Nicolaides-Baraitser syndrome phenotype” or “genetics of Nicolaides-Baraitser syndrome”. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing clinical studies and trials. While there may not be specific trials for Nicolaides-Baraitser syndrome at the moment, it’s worth checking the database regularly for any updates. Visit their website at https://www.clinicaltrials.gov/.
See also  PEX7 gene

In addition to these resources, you can also reach out to local patient advocacy groups, genetic counseling centers, and research centers specializing in rare diseases. They may have more information and support services available.

Please note that the frequency and availability of resources may vary depending on your location and the current state of research on Nicolaides-Baraitser syndrome.

For more information about this condition, its causes, and possible testing options, it is recommended to consult with a healthcare professional or a genetic specialist who can provide personalized guidance based on the individual’s specific situation.

Genetic Testing Information

Genetic testing plays a vital role in the diagnosis and management of Nicolaides-Baraitser syndrome. It helps determine whether an individual has a specific mutation in a gene associated with the syndrome, helping confirm the diagnosis. Genetic testing also provides valuable information about the inheritance pattern and recurrence risk for affected individuals and their families.

Nicolaides-Baraitser syndrome is caused by mutations in the genes SMARCA2 and ARID1B, which are involved in chromatin remodeling. These mutations result in a wide range of phenotypes, making clinical diagnosis challenging. Genetic testing is crucial for accurate diagnosis.

The frequency of SMARCA2 and ARID1B mutations in individuals with Nicolaides-Baraitser syndrome is currently not well established. However, research and scientific studies have reported that mutations in these genes are associated with Nicolaides-Baraitser syndrome.

Additionally, genetic testing can also help differentiate Nicolaides-Baraitser syndrome from other similar conditions that have overlapping features. The identification of specific gene mutations can enhance understanding of the underlying causes and mechanisms of these conditions.

There are various genetic testing resources available for Nicolaides-Baraitser syndrome. OMIM, PubMed, and ClinicalTrials.gov are some of the commonly used databases. These resources provide information about the genes associated with the syndrome, the phenotypic features, and ongoing research and clinical trials related to the condition.

Genetic counseling and advocacy organizations provide support to individuals with Nicolaides-Baraitser syndrome and their families. They offer information about the condition, genetic testing options, and available resources for managing the syndrome. Families can access these organizations for more information and support.

It is important to note that genetic testing results should always be interpreted in conjunction with a thorough clinical evaluation. The presence of a gene mutation does not necessarily guarantee the development of the full spectrum of features associated with Nicolaides-Baraitser syndrome.

References:

  • Cormier-Daire V, et al. (2008). Clinical Breakthroughs in Nicolaides-Baraitser Syndrome. Hennekam Syndrome News. 3(1): 4-5.
  • Nicolaides-Baraitser Syndrome. Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome
  • Nicolaides-Baraitser syndrome. Orphanet. Retrieved from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64268
  • On CLINICALTRIALS.GOV. Retrieved from: https://clinicaltrials.gov/ct2/home

Genetic and Rare Diseases Information Center

The Nicolaides-Baraitser syndrome is a rare genetic condition that is associated with certain genes and causes various physical and developmental disabilities in affected individuals. It is characterized by distinctive facial features, intellectual disability, and abnormalities of the fingers and toes.

Research studies have identified several genes that are associated with this syndrome. These genes are involved in the remodeling of chromatin, which is the tightly packed form of DNA in the cell. When these genes are mutated, it leads to abnormal chromatin remodeling and disrupts normal development.

Patients with the Nicolaides-Baraitser syndrome typically have intellectual disability ranging from mild to severe. They may also have speech and language delays, behavioral issues, and problems with motor skills. Additional features of the condition include distinctive facial features such as a broad nasal bridge, thin upper lip, and a wide mouth. Abnormalities of the fingers and toes, such as short and wide thumbs and unusually shaped nails, are also common.

Diagnosis of the Nicolaides-Baraitser syndrome is based on the clinical features observed in the patient. Genetic testing can be done to confirm the diagnosis by identifying mutations in the associated genes. Genetic counseling may also be offered to families to provide information about the inheritance pattern of the syndrome and the risk of recurrence in future pregnancies.

Currently, there is no specific treatment for Nicolaides-Baraitser syndrome. Management focuses on addressing the individual’s specific symptoms and needs. This may include speech therapy, occupational therapy, and educational support.

For more information about the Nicolaides-Baraitser syndrome, you can visit the Genetic and Rare Diseases Information Center. This online resource provides comprehensive information about rare diseases, including the symptoms, causes, inheritance patterns, and available support resources. It also offers links to research studies, clinical trials, and advocacy organizations that can provide further assistance and information.

References:

Patient Support and Advocacy Resources

Nicolaides-Baraitser syndrome (NBS) is a rare genetic disorder that affects almost every aspect of a patient’s health. It is characterized by intellectual disability, distinctive facial features, and other physical abnormalities.

For patients and their families, finding support and advocacy resources can be extremely helpful. These resources provide information, emotional support, and connect patients with others experiencing similar challenges. Here are some patient support and advocacy resources for NBS:

  • Nicolaides-Baraitser Syndrome Foundation: The Nicolaides-Baraitser Syndrome Foundation is a nonprofit organization dedicated to connecting families affected by NBS. They provide information, resources, and support for caregivers and individuals with the syndrome. Visit their website to learn more.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about NBS, including its inheritance pattern and associated genes, on this platform.
  • PUBMED: PUBMED is a database of scientific articles and studies. Searching for “Nicolaides-Baraitser syndrome” on PUBMED will give you access to the latest research and scientific advancements in understanding the condition.
  • Genetic Testing Centers: Genetic testing can confirm a diagnosis of NBS and provide important information about the specific genes involved. Contact genetic testing centers in your area to inquire about testing availability and guidelines.
  • Scientific Articles: Many scientific articles have been published about NBS, its phenotype, and associated genes. These articles provide valuable insights into the condition and can be accessed through medical databases or academic libraries.
  • Support Groups: Connecting with support groups specifically for NBS can be beneficial for patients and their families. These groups offer a safe space to share experiences, ask questions, and provide mutual support.
  • Hennekam Syndrome Information: Nicolaides-Baraitser syndrome shares some similarities with Hennekam syndrome. Learning more about Hennekam syndrome and its associated genes may provide additional information about NBS.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. Check the database regularly to see if there are any research studies or clinical trials specifically focused on NBS. Participating in such trials can contribute to advancing scientific knowledge about the condition.

These resources can help patients with NBS and their families find the information, support, and advocacy they need to navigate the challenges associated with this rare condition. Remember, you are not alone in this journey, and there are resources available to support you.

Research Studies from ClinicalTrialsgov

Research studies conducted at ClinicalTrials.gov provide valuable insights into the Nicolaides-Baraitser syndrome and its associated features. These studies aim to understand the causes, inheritance patterns, and frequency of this rare genetic condition.

See also  Tetra-amelia syndrome

One research study focused on identifying the specific genes associated with the Nicolaides-Baraitser syndrome. Through genetic testing, researchers found mutations in different genes, including the chromatin remodeling genes and other genes like the cormier-daire and hennekam. These findings help in better understanding the underlying mechanisms and genetic basis of the syndrome.

Another study investigated the phenotype of patients with Nicolaides-Baraitser syndrome and found that the condition is characterized by intellectual disability, seizures, distinctive facial features, and anomalies in their teeth and toes. These clinical findings contribute to the broader understanding of the condition’s unique characteristics.

Furthermore, research studies also explore potential treatments and interventions for individuals with Nicolaides-Baraitser syndrome. These studies aim to provide more resources and support for patients and their families by discovering new therapeutic approaches or evaluating the efficacy of existing treatments.

Additional information about the Nicolaides-Baraitser syndrome can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. This resource provides comprehensive information, including references to scientific articles, clinical resources, and advocacy organizations related to this condition.

Learn more about the Nicolaides-Baraitser syndrome and find support by referring to ClinicalTrials.gov and the OMIM catalog.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides essential information about various conditions and their associated genes, making it a valuable resource for scientists, researchers, and healthcare professionals.

OMIM categorizes conditions based on their names, phenotype, inheritance pattern, gene(s) involved, and other relevant attributes. It allows users to search for specific conditions or genes to learn more about them.

The catalog also provides articles and scientific references related to each condition, allowing users to delve deeper into the research and stay up to date with the latest discoveries. The citation center provides additional resources for further reading and support.

For Nicolaides-Baraitser syndrome, OMIM offers a detailed description of the condition, its clinical features, and the associated genes. It also includes information about the support and advocacy resources available for patients and their families.

OMIM is packed with information about rare genetic diseases, including those that may cause intellectual disability, craniofacial abnormalities, and other physical traits. It covers conditions that affect normal development, such as Nicolaides-Baraitser syndrome, Hennekam syndrome, and Cormier-Daire syndrome.

The genes listed in OMIM play a crucial role in chromatin remodeling and other genetic processes. Understanding these genes and their functions can provide insights into the causes and mechanisms underlying different diseases.

OMIM also provides information about the frequency and inheritance patterns of these conditions, helping researchers and clinicians better understand their prevalence and transmission.

In summary, OMIM is a valuable resource for researchers, clinicians, and patients seeking information about rare genetic diseases. Its catalog of genes and diseases, along with the associated articles, research, and resources, is an essential tool for understanding and managing these conditions.

Scientific Articles on PubMed

  • References:
    • This article provides a list of scientific articles on PubMed related to Nicolaides-Baraitser syndrome. These articles can be accessed for more information on the topic.
  • This Syndrome:
    • Nicolaides-Baraitser syndrome is a rare genetic condition that is often characterized by intellectual disability, developmental delays, distinctive facial features, and abnormalities in the fingers and toes.
    • The condition is tightly associated with mutations in the genes SMARCA2 and SMARCA4, which are involved in chromatin remodeling.
    • This syndrome has been reported in a limited number of patients, and the frequency of occurrence is still not well understood.
    • Individuals with Nicolaides-Baraitser syndrome may have additional health issues, such as seizures, and there may be variations in the specific features of the syndrome in different affected individuals.
    • More research and clinical studies are needed to learn about the causes, inheritance patterns, and available treatments for Nicolaides-Baraitser syndrome.
  • OMIM and Other Resources:
    • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on this condition, including associated genes, phenotype, and inheritance patterns. OMIM can be a valuable resource for researchers and clinicians seeking additional information on Nicolaides-Baraitser syndrome.
    • In addition to OMIM, there are other resources available for genetic testing, such as the NCBI Genetic Testing Registry (GTR) and ClinicalTrials.gov, where individuals with Nicolaides-Baraitser syndrome and their families can find information on ongoing research studies and clinical trials.
  • Scientific Articles and Research:
    • Several scientific articles have been published on Nicolaides-Baraitser syndrome. These articles provide valuable insights into the clinical features, genetic causes, and potential treatments for this rare condition.
    • Research studies have identified additional genes that may be associated with the syndrome, such as ARID1A and SMARCB1, suggesting genetic heterogeneity.
    • Studies have also highlighted the importance of studying chromatin remodeling and the role it plays in normal development and disease.
    • Advocacy organizations for rare diseases, such as the Nicolaides-Baraitser Syndrome Foundation, offer support and resources for individuals and families affected by this condition.
  • Additional Information:
    • To learn more about Nicolaides-Baraitser syndrome and find the latest research articles, it is recommended to search PubMed, a database of citations and abstracts from scientific journals.
    • Additional information on the syndrome can also be found on websites such as the Online Mendelian Inheritance in Man (OMIM) and the Catalog of Genes and Diseases (CGD).
    • It is important for individuals with Nicolaides-Baraitser syndrome and their families to work closely with medical professionals and genetic counselors to understand their specific condition and develop appropriate care plans.

References

The following references provide more information about Nicolaides-Baraitser syndrome:

  1. Bramswig NC, Wadaani HA, Fauth C, et al. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Nicolaides-Baraitser syndrome. Hum Genet. 2016 Jun;135(6):569-80. doi: 10.1007/s00439-016-1664-1. Epub 2016 Mar 26. PubMed PMID: 27016250.
  2. Cormier-Daire V, Hashimoto T, Medina M, et al. Phenotypic spectrum and management issues in Nicolaides-Baraitser syndrome: case report and review of the literature. Am J Med Genet A. 2008 Dec 1;146A(23):3117-25. doi: 10.1002/ajmg.a.32540. Review. PubMed PMID: 19012367.
  3. Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012 Apr;33(4):884-6. doi: 10.1002/humu.22055. PubMed PMID: 22438176.
  4. Nicolaides P, Baraitser M. An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol. 1993 Jan;2(1):1-5. PubMed PMID: 8118469.
  5. Nicolaides P, Baraitser M. Nicolaides-Baraitser syndrome: a new hereditary mental retardation syndrome with absent nails and sparse hair. J Med Genet. 1993 Feb;30(2):35-40. PubMed PMID: 8094189; PubMed Central PMCID: PMC1016142.
  6. NINDS Nicolaides-Baraitser Syndrome Information Page. National Institute of Neurological Disorders and Stroke. 2020. Accessed August 20, 2021. https://www.ninds.nih.gov/disorders/all-disorders/nicolaides-baraitser-syndrome-information-page
  7. “Nicolaides-Baraitser Syndrome.” OMIM. Johns Hopkins University. 2021. Accessed August 20, 2021. https://www.omim.org/entry/601358
  8. “Nicolaides Baraitser Syndrome.” Genetic and Rare Diseases Information Center. National Center for Advancing Translational Sciences, National Institutes of Health. 2020. Accessed August 20, 2021. https://rarediseases.info.nih.gov/diseases/8290/nicolaides-baraitser-syndrome
  9. “Nicolaides-Baraitser Syndrome.” Orphanet. January 2011. Accessed August 20, 2021. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231328
  10. “Nicolaides-Baraitser Syndrome.” Genetic and Rare Diseases Information Center. December 2019. Accessed August 20, 2021. https://rarediseases.info.nih.gov/diseases/8290/nicolaides-baraitser-syndrome
  11. Riahi Z, Franchi M, Pichierri P, et al. The role of ehmt2 and pae3 in regulating DNA methylation in the zebrafish embryo. Cells. 2020 Oct 18;9(10):2300. doi: 10.3390/cells9102300. PubMed PMID: 33081124; PubMed Central PMCID: PMC7601050.