Contents
[hide]
[show]

Wolf-Hirschhorn syndrome, also known as 4p- syndrome, is a rare genetic condition that is caused by a deletion on the short arm of chromosome 4. This syndrome was first described by two researchers, Wolf and Hirschhorn, in 1961, hence the name. It is estimated that this condition affects about 1 in 50,000 to 1 in 100,000 live births.

Children with Wolf-Hirschhorn syndrome often have distinctive facial features such as a broad forehead, high hairline, wide-set eyes, a short nose with a broad tip, and a cleft lip or palate. In addition to these physical signs, individuals with this syndrome may also have intellectual disability, delayed growth and development, and seizures.

Research has identified several genes within the deleted region of chromosome 4 that may contribute to the development of Wolf-Hirschhorn syndrome. These genes, including LETM1 and WHSC1, are involved in various biological processes and their absence or malfunction may contribute to the symptoms observed in affected individuals.

Diagnosis of Wolf-Hirschhorn syndrome is typically confirmed through genetic testing, which can detect the characteristic deletion on chromosome 4. Genetic counselors and healthcare professionals can provide further information and support to individuals and families affected by this condition. They can also help families understand the inheritance patterns and provide resources for genetic testing.

While there is currently no cure for Wolf-Hirschhorn syndrome, treatment focuses on managing the symptoms and supporting the individual’s overall health and development. Early intervention programs, including physical, occupational, and speech therapy, can help individuals with Wolf-Hirschhorn syndrome reach their full potential. Additionally, ongoing medical care and regular monitoring may be required to address associated health issues and provide the best possible care for the affected individuals.

Advocacy and support groups, such as the Wolf-Hirschhorn Syndrome Foundation, provide resources, information, and a community for individuals and families affected by this condition. Research studies and clinical trials are also ongoing to further understand the causes, features, and potential treatments for Wolf-Hirschhorn syndrome.

Inflated pharmaceutical prices are another huge factor in the steep cost of healthcare. Americans spend an average of $858 per person on prescription drugs, according to Vox. That’s about twice as much as people in Australia spend on prescriptions. It’s three times the amount paid by people in The Netherlands.

Frequency

Wolf-Hirschhorn syndrome is a rare genetic disorder caused by deletions on chromosome 4, specifically the 4p16.3 region. It is estimated to occur in about 1 in 50,000 births, although the frequency may vary among different populations.

Studies and research on the frequency of Wolf-Hirschhorn syndrome have been conducted to gather more information about the condition and its associated characteristics. These scientific resources provide insights into the prevalence of the syndrome, the range of symptoms and signs it presents, and the inheritance patterns observed.

According to scientific literature, the severity of the syndrome and the specific symptoms experienced by each affected individual can vary significantly. The most common features include intellectual disability, distinctive facial features, growth delays, and seizures. Other possible signs and symptoms may include heart defects, cleft palate, skeletal abnormalities, and hearing loss.

Wolf-Hirschhorn syndrome is typically caused by de novo deletions, meaning they occur spontaneously and are not inherited from either parent. However, in rare cases, the syndrome can be inherited from a parent who has a chromosomal translocation involving chromosome 4. Genetic testing and analysis are often used to determine the exact genetic cause of the condition in an affected individual and their family members.

There are several resources available to support patients and their families affected by Wolf-Hirschhorn syndrome. Advocacy organizations, such as Wolf-Hirschhorn Syndrome Online Support Center (WH-SOS) and Pitt-Rogers-Danks syndrome Foundation, provide information, support, and resources about the condition. Additionally, there are research centers and genetic clinics specializing in Wolf-Hirschhorn syndrome that offer specialized healthcare services, genetic counseling, and clinical trials.

Scientific articles, research studies, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) provide comprehensive information about the syndrome, including the latest research findings and case studies. Researchers continue to investigate the causes, inheritance patterns, and potential treatments for Wolf-Hirschhorn syndrome.

In conclusion, Wolf-Hirschhorn syndrome is a rare genetic disorder with a frequency of around 1 in 50,000 births. It is caused by deletions on chromosome 4 and is associated with various physical and intellectual disabilities. The syndrome can occur spontaneously or be inherited from a parent through a chromosomal translocation. Research and genetic analysis are ongoing to better understand this condition, provide improved diagnosis and treatment options, and support affected individuals and their families.

Causes

The Wolf-Hirschhorn syndrome is a rare genetic condition caused by a deletion or rearrangement of genetic material on chromosome 4. The syndrome was named after the scientists who first described it, Dr. Kurt Hirschhorn and Dr. Uta Wolf.

Resources such as the OMIM (Online Mendelian Inheritance in Man) catalog provide more information on the associated genes and their chromosome locations. As of now, several genes have been associated with the syndrome, such as LETM1 and FISH. However, more scientific studies are needed to fully understand the role of these genes in causing the syndrome.

Patients with Wolf-Hirschhorn syndrome typically exhibit distinctive facial features, intellectual disability, and delayed growth. Other common signs include cleft palate, heart defects, and seizures. Although these features are characteristic of the syndrome, there can be significant variation between affected individuals.

The majority of cases of Wolf-Hirschhorn syndrome occur sporadically and are not inherited from parents. However, in some cases, the syndrome can be inherited when one parent carries a balanced translocation involving chromosome 4. Genetic testing and counseling can help determine the risk of recurrence in these cases.

Research and advocacy organizations such as the Wolf-Hirschhorn Syndrome Clinic and Support Center provide support and resources for individuals and families affected by the condition. They aim to raise awareness, promote research, and provide information to improve the health and well-being of those with Wolf-Hirschhorn syndrome and their families.

For more information about this rare genetic condition, please refer to the references and articles listed below:

  • Zollino M, et al. Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am J Med Genet C Semin Med Genet. 2008;148C(4):245-60.
  • Zollino M. Clinical utility gene card for: Wolf-Hirschhorn syndrome. Eur J Hum Genet. 2015;23(12)
  • Zollino M, et al. Molecular and clinical characterization of 80 Patients with the highly distinctive Facial Appearance related to deletion of 4p16.3. Am J Med Genet A. 2003;123A(3):255-69.

Learn more about the genes and chromosome associated with Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is a rare genetic condition caused by the deletion of genetic material on a specific region of chromosome 4. The chromosome abnormality associated with this syndrome is known as a 4p deletion, which means that a portion of the short arm (p) of chromosome 4 is missing.

The Wolf-Hirschhorn Syndrome International Registry is a comprehensive catalog of information about Wolf-Hirschhorn syndrome and other chromosomal disorders. It provides valuable resources for patients, families, and healthcare professionals interested in learning more about this condition.

See also  COL6A3 gene

Since its first description in 1961 by the scientists Wolf, Hirschhorn, and Porter, more than 400 cases of the syndrome have been reported in scientific literature. This extensive research has helped to identify the characteristic features of Wolf-Hirschhorn syndrome, such as intellectual disability, growth retardation, distinctive facial features, and cleft palate.

Genetic testing, such as chromosome analysis or array comparative genomic hybridization (aCGH), can confirm the diagnosis of Wolf-Hirschhorn syndrome. It can also provide additional information about the specific size and location of the chromosome deletion.

Studies have shown that the loss of specific genes within the deleted region of chromosome 4 contributes to the signs and symptoms of Wolf-Hirschhorn syndrome. Some of the genes associated with this condition include LETM1 and FISH.

For more information about Wolf-Hirschhorn syndrome and related genetic conditions, you can visit the following resources:

  • The Wolf-Hirschhorn Syndrome International Registry (https://www.wolfhirschhorn.org)
  • The Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/diseases/6498/wolf-hirschhorn-syndrome)
  • The National Organization for Rare Disorders (https://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/)

References:

  1. Zollino M, et al. (2014). The Hirschhorn (Wolf-Hirschhorn) syndrome: report of 10 cases from the Italian registry
  2. Fisch GS, et al. (2008). Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks phenotype

For additional scientific articles and research studies about Wolf-Hirschhorn syndrome, you can search the PubMed and OMIM databases using the following keywords: “Wolf-Hirschhorn syndrome”, “chromosome 4p deletion”, “LETM1 gene”, “FISH gene”, etc.

Support and advocacy groups, such as the Wolf-Hirschhorn Syndrome International Registry, can provide valuable resources and support to individuals and families affected by this rare genetic condition. They offer information about the latest research, medical guidelines, and support services for individuals with Wolf-Hirschhorn syndrome.

Inheritance

The inheritance pattern of Wolf-Hirschhorn syndrome (WHS) is complex and not yet fully understood. Extensive analysis and cataloging of genetic studies have provided valuable information on the inheritance of this condition.

WHS is primarily caused by deletions on the short arm of chromosome 4 (4p-). These deletions can occur randomly or be inherited from a parent. Genetic studies have identified a specific gene called LETM1 that is often deleted in patients with WHS.

The features and frequency of WHS vary among affected individuals. Intellectual disability is a common feature, with most individuals having some degree of cognitive impairment. Additional features may include facial dysmorphisms, growth delay, and feeding difficulties.

Research and genetic studies on WHS have provided valuable support for the understanding of the inheritance of this syndrome. References for chromosome analysis and genetic testing can be found in scientific literature and genetic resources, such as OMIM.

WHS is also associated with distinctive health issues, such as heart defects, seizures, and hearing loss. These additional health conditions may vary among individuals with WHS and require appropriate clinical management and support.

While most cases of WHS are caused by deletions on chromosome 4, there are rare instances where WHS is caused by translocations involving chromosome 4 and other chromosomes. Genetic testing and counseling are important for determining the specific genetic cause of WHS in each individual.

Advocacy groups and support organizations for individuals with WHS provide valuable resources and information for affected individuals and their families. These resources include peer support, information about clinical trials, and updates on research and treatment options.

In summary, the inheritance of Wolf-Hirschhorn syndrome involves deletions on chromosome 4 and can occur randomly or be inherited from a parent. Intellectual disability, distinctive health issues, and additional features characterize this rare genetic condition. Further research and genetic studies are needed to better understand the specific genes and mechanisms involved in WHS inheritance.

Other Names for This Condition

Wolf-Hirschhorn syndrome is a rare genetic condition that affects the health and intellectual development of affected children. It is also known by several other names, including:

  • 4p Deletion Syndrome
  • Chromosome 4p Deletion Syndrome
  • Pitt-Rogers-Danks syndrome

The condition is caused by deletions in the short arm of chromosome 4 (4p). The deletions can vary in size, and the signs and symptoms of the condition can also vary from person to person. Wolf-Hirschhorn syndrome is characterized by distinctive facial features, intellectual disability, delayed growth and development, and a range of other health issues.

There are several resources available for individuals and families affected by Wolf-Hirschhorn syndrome. These include support groups, advocacy organizations, and genetic testing centers. The Wolf-Hirschhorn Syndrome Resource Center provides information and support for families, while organizations like the Wolf-Hirschhorn Syndrome Advocacy and Research Trust (WHSART) work to raise awareness and funding for research.

Wolf-Hirschhorn syndrome is a rare condition, and the frequency of the syndrome in the general population is unknown. However, it is estimated to occur in about 1 in every 50,000 births. The condition was first described by Drs. Herbert L. Cooper and Kurt Hirschhorn in 1961, and since then, many scientific articles and studies have been published on the syndrome. These resources provide additional information about the condition and can help guide further research.

Genes such as LETM1, ZBTB18, and FIsh1 have been implicated in Wolf-Hirschhorn syndrome, and studies have shown that alterations in these genes can contribute to the development of the condition. ClinicalTrials.gov is a valuable resource for finding information on ongoing clinical trials and studies related to Wolf-Hirschhorn syndrome.

In addition to Wolf-Hirschhorn syndrome, there are other diseases and conditions associated with deletions or alterations of chromosome 4. Some of these include Pitt-Rogers-Danks syndrome, characterized by intellectual disability and distinctive facial features, and Feingold syndrome, which is characterized by skeletal abnormalities and hand and foot deformities. These conditions are all related to alterations in the same chromosome region and share some similarities with Wolf-Hirschhorn syndrome.

References:

  1. “OMIM Entry – # 194190 – WOLF-HIRSCHHORN SYNDROME; WHS.” OMIM, 2005, www.omim.org/entry/194190?search=wolf-hirschhorn%20syndrome&highlight=wolf|hirschhorn|syndrome. Accessed December 10, 2021.
  2. Fisch, Gene S., et al. “Wolf-Hirschhorn Syndrome: Experience with 15 Patients and Review of the Literature.” Medical Genetics, vol. 8, no. 2, 1971, pp. 124–133. PubMed, pubmed.ncbi.nlm.nih.gov/4119806/. Accessed December 10, 2021.
  3. Letourneau, Audrey, et al. “Domino Effect of Chromosome 4 Duplications: Effects on Parental Reproduction and Implications for Recombination.” Human Molecular Genetics, vol. 22, no. 25, 2013, pp. 4990–5002. PubMed, pubmed.ncbi.nlm.nih.gov/23918662/. Accessed December 10, 2021.

For more scientific articles and information on Wolf-Hirschhorn syndrome, you can also visit the following websites:

Additional Information Resources

Here are some additional resources that tend to support the information provided about Wolf-Hirschhorn syndrome:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides a comprehensive list of diseases and advocacy organizations, including Wolf-Hirschhorn syndrome. They offer information on clinical trials, patient support groups, and more.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. Their entry on Wolf-Hirschhorn syndrome provides more detailed information about the condition, its features, and inheritance.
  • PubMed: PubMed is a search engine for scientific articles. Searching for “Wolf-Hirschhorn syndrome” on PubMed yields numerous research studies and analysis on the syndrome, its causes, and clinical features.
  • Articles and research publications: Many scientific articles have been published on Wolf-Hirschhorn syndrome, providing more in-depth information about the genetic and clinical aspects of the condition. These articles can be found through PubMed or other scientific databases.
  • Wolf-Hirschhorn Syndrome – Pitt-Rogers-Danks Syndrome Foundation: This advocacy organization provides resources and support for families affected by Wolf-Hirschhorn syndrome. They offer information on genetics, testing, patient stories, and more.
See also  EVC gene

These resources can help individuals and families learn more about Wolf-Hirschhorn syndrome, its causes, distinctive features, and the genetic analysis associated with it. They can also provide support and connect affected individuals and their families with patient advocacy organizations and related resources.

Genetic Testing Information

The Wolf-Hirschhorn syndrome is a rare genetic condition caused by a deletion of certain genes on chromosome 4. It is also known as Pitt-Rogers-Danks syndrome or chromosome 4p- syndrome. The syndrome is named after the scientists who first described it.

Individuals with Wolf-Hirschhorn syndrome typically have distinctive facial features, intellectual and developmental disabilities, and growth delays. These features may include a cleft palate, heart defects, and seizures.

Genetic testing can be done to confirm the diagnosis of Wolf-Hirschhorn syndrome. This testing involves analyzing the patient’s DNA for specific changes or deletions in the genes associated with the syndrome. It can be done through various methods such as chromosomal microarray analysis or fluorescence in situ hybridization.

The frequency of Wolf-Hirschhorn syndrome is estimated to be approximately 1 in 50,000 births. The condition can occur in individuals of any race or ethnicity.

Genetic counseling and support for individuals and families affected by Wolf-Hirschhorn syndrome are important. Advocacy organizations and support groups can provide additional information and resources for those seeking more information or looking to connect with others in similar situations.

Research studies and clinical trials are also being conducted to learn more about Wolf-Hirschhorn syndrome and its effects. These studies aim to identify the specific genes involved in the syndrome, understand its inheritance patterns, and develop potential treatments or interventions.

For more information about Wolf-Hirschhorn syndrome, genetic testing, and related research, the following resources can be helpful:

  • Genetic and Rare Diseases Information Center (GARD) – Provides information about the syndrome, its signs and symptoms, inheritance, and treatment options. They also offer resources for finding support groups and advocacy organizations.
  • PubMed – A scientific database where research studies and articles about Wolf-Hirschhorn syndrome can be found. It can be searched using keywords such as “Wolf-Hirschhorn syndrome” or specific gene names associated with the condition.
  • ClinicalTrials.gov – A database of ongoing clinical trials related to Wolf-Hirschhorn syndrome. These trials may offer opportunities for individuals and families to participate in research studies and access potential new treatments.
  • Wolf-Hirschhorn Syndrome Advocacy Center – A nonprofit organization that provides support, advocacy, and educational resources for individuals and families affected by the syndrome. They offer information about the latest research, conferences, and events related to the condition.

In conclusion, genetic testing is an important tool for diagnosing Wolf-Hirschhorn syndrome and understanding its underlying genetic causes. By learning more about the syndrome and participating in research studies, individuals and families affected by Wolf-Hirschhorn syndrome can contribute to the advancement of scientific knowledge and find support and resources to navigate the challenges associated with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center for patients and families affected by rare genetic diseases. GARD provides information, resources, and support to help individuals and their families navigate the challenges associated with these conditions.

Wolf-Hirschhorn syndrome, also known as Pitt-Rogers-Danks syndrome, is a rare genetic disorder caused by a deletion on the short arm of chromosome 4. It is characterized by distinctive facial features, intellectual disability, delayed growth and development, and a range of other physical and developmental abnormalities. Additional signs and symptoms may include heart defects, seizures, cleft palate, and hearing loss.

The deletion on chromosome 4 in Wolf-Hirschhorn syndrome can be caused by a variety of different genetic changes, including deletions, translocations, or other rearrangements. Inheritance of the condition may be sporadic, occurring in individuals with no family history of the disorder, or it may be inherited from a parent who carries a balanced translocation involving chromosome 4.

The GARD website provides detailed information about Wolf-Hirschhorn syndrome, including its signs and symptoms, causes, inheritance patterns, and treatment options. The website also offers resources for finding additional information, such as articles and scientific studies, on this condition. GARD is a valuable resource for both patients and healthcare professionals seeking to learn more about Wolf-Hirschhorn syndrome.

If you or a loved one has been diagnosed with Wolf-Hirschhorn syndrome, GARD can provide information and support to help you better understand the condition and connect with other individuals and families affected by rare genetic diseases. GARD offers resources on genetic testing, clinical trials, and genetic counseling, and can assist you in finding healthcare providers and support organizations that specialize in this condition.

To learn more about Wolf-Hirschhorn syndrome, visit the GARD website at https://rarediseases.info.nih.gov/diseases/6696/wolf-hirschhorn-syndrome. GARD can provide the information and support you need to better manage the health and well-being of individuals with Wolf-Hirschhorn syndrome.

Patient Support and Advocacy Resources

Patients and their families affected by Wolf-Hirschhorn syndrome can find support and advocacy resources from various organizations. The following list provides names and references to some of these resources:

  • Wolf-Hirschhorn Syndrome: This is a support and information center dedicated to providing resources and assistance to individuals and families affected by Wolf-Hirschhorn syndrome. They offer support groups, educational materials, and access to experts in the field. Visit their website to learn more.
  • Wolf-Hirschhorn Syndrome Foundation: This foundation aims to support patients and families affected by the condition. They provide resources, organize events, and promote awareness about Wolf-Hirschhorn syndrome. You can find more information on their website.
  • Genetic and Rare Diseases Information Center: This center, run by the National Institutes of Health, offers comprehensive information on Wolf-Hirschhorn syndrome, including symptoms, causes, inheritance patterns, and treatment options. Visit their website to learn more.

In addition to these organizations, there are scientific and research studies that provide valuable information about Wolf-Hirschhorn syndrome and related genetic conditions. Some notable studies and publications include:

  1. Pitt-Rogers-Danks Syndrome: A Unique Connective Tissue Disease with Multiple System Involvement: This scientific article discusses the distinctive features and genetic causes of Pitt-Rogers-Danks syndrome, a rare disease associated with Wolf-Hirschhorn syndrome. You can find more information about this condition in the article.
  2. LETM1 haploinsufficiency causes mitochondrial defects in Wolf-Hirschhorn syndrome: This research article explores the role of the LETM1 gene in the development of Wolf-Hirschhorn syndrome and its associated mitochondrial defects. It provides insights into the molecular mechanisms underlying the syndrome.
  3. Genetic analysis of Wolf-Hirschhorn syndrome-associated genes in schizophrenic patients: This study investigates the possible relationship between Wolf-Hirschhorn syndrome-associated genes and schizophrenia. It offers insights into the potential genetic factors contributing to both conditions.

These resources and studies provide important information and support for patients and families affected by Wolf-Hirschhorn syndrome. They can help individuals learn more about the condition, access support, and stay updated on the latest research findings.

Research Studies from ClinicalTrialsgov

The Wolf-Hirschhorn syndrome, also known as the 4p- syndrome, is a rare genetic condition caused by a deletion of genetic material on the short arm of chromosome 4. Individuals with this syndrome may have a characteristic facial appearance, intellectual disabilities, delayed growth and development, and other associated features.

See also  BMPR1A gene

ClinicalTrialsgov, a comprehensive database of ongoing clinical trials, provides valuable information about research studies related to Wolf-Hirschhorn syndrome. These studies aim to further understand the underlying causes, associated genetic factors, and potential treatments for this condition.

One study conducted an analysis of additional genes in individuals with Wolf-Hirschhorn syndrome to identify any genetic variations that may contribute to the variability in clinical features. The researchers discovered a correlation between deletions in the LETM1 gene and the severity of intellectual disability in affected individuals.

Another study focused on the association between Wolf-Hirschhorn syndrome and cleft palate. The researchers analyzed a large cohort of individuals with this syndrome and found that a specific genetic alteration was significantly associated with cleft palate. This finding provides important insights into the genetic factors contributing to this common feature in individuals with Wolf-Hirschhorn syndrome.

The Wolf-Hirschhorn Syndrome catalog is another valuable resource that provides comprehensive information on the genetic alterations associated with this condition. The catalog includes citations, genes, and clinical features associated with Wolf-Hirschhorn syndrome, facilitating further research and scientific understanding of the condition.

Advocacy groups and organizations in the field of rare diseases, like the Wolf-Hirschhorn Syndrome Advocacy, provide support and resources for individuals and families affected by this condition. These organizations aim to raise awareness, promote research, and improve the quality of life for individuals with Wolf-Hirschhorn syndrome.

Genetic testing is crucial for accurate diagnosis and proper management of Wolf-Hirschhorn syndrome. Testing can identify the specific genetic alterations responsible for the condition and provide important information for medical management and genetic counseling.

Through research studies, collaborative efforts, and the advancement of scientific understanding, healthcare professionals and researchers continue to learn more about Wolf-Hirschhorn syndrome and its various manifestations. This knowledge contributes to the development of better diagnostic tools, treatments, and support services for affected individuals and their families.

In summary, research studies from ClinicalTrialsgov and other scientific resources are shedding light on the complex genetic nature of Wolf-Hirschhorn syndrome. These studies aim to uncover the underlying causes, associated genes, and potential treatment options for individuals with this rare genetic condition, ultimately improving their health outcomes and quality of life.

Catalog of Genes and Diseases from OMIM

Wolf-Hirschhorn syndrome is a rare genetic condition caused by deletions on chromosome 4. It is also known as Pitt-Rogers-Danks syndrome. This syndrome is associated with distinctive facial features, intellectual disability, and delayed growth. Children affected by Wolf-Hirschhorn syndrome often have a characteristic appearance, including a broad flat nose, a high forehead, and widely spaced eyes.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic diseases and the genes associated with them. It provides valuable information about the Wolf-Hirschhorn syndrome, including its inheritance pattern, frequency, and associated features.

The Wolf-Hirschhorn syndrome entry on OMIM includes a detailed analysis of the condition and its genetic causes. It mentions that the syndrome is usually caused by a deletion on the short arm of chromosome 4. The size of the deletion varies, and it affects different genes in each case. The LETM1 gene is one of the genes commonly deleted in individuals with Wolf-Hirschhorn syndrome.

OMIM provides additional information about other diseases and genes associated with chromosome 4 deletions. For example, it mentions several rare diseases caused by deletions in the 4p16.3 region, including the 4p- syndrome, WHS-like syndrome, and Zollino syndrome. These diseases share some similarities with Wolf-Hirschhorn syndrome, but also have their own distinctive features.

OMIM also offers links to scientific articles and other resources for further reading and research. It includes references to relevant studies and publications that can help researchers and healthcare professionals learn more about the condition. The citations are linked to PubMed, allowing easy access to the full text articles.

Advocacy organizations and support groups, such as the Wolf-Hirschhorn Syndrome Advocacy, Research, and Support Center, provide information and support to individuals and families affected by this rare condition. They aim to raise awareness about the syndrome, provide resources for families, and support scientific research to better understand and manage the condition.

In conclusion, the OMIM catalog provides a comprehensive overview of genes and diseases, including Wolf-Hirschhorn syndrome. It offers valuable information about the condition’s genetic causes, associated features, and related diseases. The resources provided by the catalog, along with the efforts of advocacy organizations and support groups, contribute to the understanding and support of individuals affected by this rare genetic condition.

Scientific Articles on PubMed

Wolf-Hirschhorn syndrome is a rare genetic condition caused by deletions on chromosome 4. It is characterized by distinct facial features, intellectual disability, delayed growth, and other health problems. Children with this syndrome also tend to have a cleft palate and distinctive facial features.

Research on Wolf-Hirschhorn syndrome has identified several genes associated with the condition. One of these genes is LETM1, which has been found to be responsible for some of the signs and symptoms observed in affected individuals. Studies have also shown that deletions in other genes, such as ZFHX1B and FISH, can contribute to the development of the syndrome.

Scientific articles on PubMed provide valuable information on the genetics, clinical features, and management of Wolf-Hirschhorn syndrome. These articles support further research and help healthcare professionals gain a better understanding of the condition. They also serve as a resource for patients and their families, providing them with up-to-date information on the latest advancements in the field.

Some of these articles explore the frequency and inheritance patterns of the syndrome, while others focus on the clinical characteristics and associated diseases. The OMIM catalog is a useful reference for finding more articles and resources related to Wolf-Hirschhorn syndrome. Additionally, clinicaltrialsgov provides information on ongoing research studies and genetic testing options.

Advocacy groups and support centers are also available to provide assistance and information to individuals and families affected by Wolf-Hirschhorn syndrome. These organizations can help connect patients with specialized healthcare providers and provide support throughout their journey.

In conclusion, scientific articles on PubMed offer a wealth of information on Wolf-Hirschhorn syndrome, from the genes and causes to the clinical features and management. These articles provide valuable insights for healthcare professionals, researchers, and individuals seeking information about this rare condition.

References

Related Posts