Apert syndrome

Published Categorized as Genetics
Apert syndrome

Apert syndrome, also known as acrocephalosyndactyly type I, is a rare genetic disorder that affects the development of the bones in the skull, face, and limbs. It is named after the French physician Eugène Apert, who first described the condition in 1906. Apert syndrome is estimated to occur in about 1 in 65,000 to 88,000 live births.

The syndrome is caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, which is involved in the development of bones and other tissues. These mutations alter the normal function of the FGFR2 protein, leading to abnormal skull and limb development.

Apert syndrome is characterized by craniosynostosis, which is the premature fusion of the bones in the skull. This can result in an abnormally shaped head and face, with features such as a high forehead, wide-set and bulging eyes, a small upper jaw, and a beaked nose. The syndrome is also associated with syndactyly, which is the fusion of the fingers and toes.

Individuals with Apert syndrome often have additional symptoms and health problems, such as hearing loss, dental abnormalities, vision problems, and a higher risk of respiratory infections. Due to the complexity of the condition, a multidisciplinary approach to treatment is typically necessary, involving specialists in genetics, craniofacial surgery, orthopedics, and other fields.

Research on Apert syndrome is ongoing, with scientists working to understand the underlying causes of the condition and develop new treatment options. Genetic testing can confirm a diagnosis of Apert syndrome, and prenatal testing is available for families with a known mutation in the FGFR2 gene. Support and advocacy groups, such as the Apert Syndrome Foundation, provide resources and information for individuals and families affected by the condition.

References:

– OMIM: “APERT SYNDROME” (176280)

– PubMed: “Apert Syndrome” (https://pubmed.ncbi.nlm.nih.gov/20301298/)

– ClinicalTrials.gov: “Apert Syndrome” (https://clinicaltrials.gov/ct2/results?cond=Apert+Syndrome&term=&cntry=&state=&city=&dist=)

– Center for Rare Diseases and Conditions: “Apert Syndrome” (https://rarediseases.org/rare-diseases/apert-syndrome/)

– Additional articles and clinical studies can be found in scientific journals and medical literature.

Frequency

Apert syndrome is a rare genetic condition that occurs in approximately 1 in every 65,000 to 88,000 live births. It is caused by mutations in the FGFR2 gene. The syndrome is inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the condition on to their children.

Apert syndrome is characterized by premature fusion of the skull bones, leading to an abnormally shaped head and face. It is also associated with abnormalities in the fingers and toes, such as syndactyly (fused fingers or toes). Other clinical features of Apert syndrome include intellectual disability, hearing loss, and breathing problems.

Research on Apert syndrome is ongoing, with studies aimed at understanding the causes and mechanisms of the condition. Additional research is also focused on developing better treatment options and improving the quality of life for affected individuals.

The Apert Syndrome Patient Advocacy Group, based in Hayward, USA, provides support and resources for individuals and families affected by Apert syndrome. They offer information, educational materials, and support for advocacy efforts. The group also maintains a catalog of scientific articles and studies related to Apert syndrome, which can be accessed through their website.

More information about Apert syndrome can be found in scientific databases such as PubMed and OMIM. These resources provide access to articles, research studies, and clinical trials related to the syndrome. OMIM also provides a list of associated genes and their names, which can be helpful for genetic testing and counseling.

In summary, Apert syndrome is a rare genetic syndrome with a frequency of approximately 1 in every 65,000 to 88,000 live births. It is associated with abnormalities in the skull, face, and fingers, and is inherited in an autosomal dominant pattern. Ongoing research and support from advocacy groups are helping to advance understanding and treatment of this condition.

Causes

The exact scientific causes of Apert syndrome are still unknown. However, it is believed to be a genetic condition with a frequency of 1 in every 65,000 to 88,000 births worldwide. Almost all cases of Apert syndrome are caused by a mutation in the FGFR2 gene, specifically the S252W or P253R mutation.

Other genes may also be associated with Apert syndrome, but further research is needed to learn more about their involvement in the condition. Genetic testing can be done to confirm a diagnosis, and a catalog of diseases associated with Apert syndrome is available for clinical reference.

The main characteristic of Apert syndrome is craniosynostosis, a condition where the skull bones fuse together prematurely. This leads to the characteristic shape of the head seen in Apert syndrome patients. Craniosynostosis can also affect the growth and development of the brain, causing additional complications.

Apert syndrome is often associated with syndactyly, a condition where fingers and toes are fused together. The fused fingers and toes in Apert syndrome can cause functional and cosmetic issues, but surgery can be done to separate them.

Although the exact cause of Apert syndrome is not fully understood, there are resources and support available for those affected by the condition. Advocacy groups, such as the Apert Syndrome Foundation, provide information, support, and resources for families and individuals with Apert syndrome. Additionally, clinical trials and research studies are ongoing to further understand the causes and potential treatments for Apert syndrome.

For more information about Apert syndrome and associated diseases, refer to the following references:

Learn more about the gene associated with Apert syndrome

Apert syndrome is a rare genetic condition characterized by the premature fusion of certain skull bones and syndactyly (fusion of fingers and toes). It is caused by mutations in the FGFR2 gene, which codes for a protein involved in the development and maintenance of bone and tissue.

Research studies have shown that mutations in the FGFR2 gene are responsible for the development of Apert syndrome. These mutations can be inherited from a parent or can occur spontaneously in the affected individual. The syndrome has a frequency of about 1 in 65,000 to 88,000 live births.

The FGFR2 gene has been extensively studied in relation to Apert syndrome. Scientists and researchers have conducted numerous studies to understand the specific role of this gene in the development of the condition. These studies have provided valuable information on the underlying genetic mechanisms and molecular pathways involved in Apert syndrome.

Additional research on the FGFR2 gene has also shed light on its association with other craniofacial syndromes, such as Crouzon syndrome, which share similar clinical features with Apert syndrome. Understanding these genetic connections can help in the diagnosis and management of these rare genetic diseases.

There are several resources available for learning more about the FGFR2 gene and Apert syndrome. Scientific articles published in peer-reviewed journals and databases such as PubMed and OMIM provide detailed information on the genetic basis, clinical features, and inheritance patterns of the syndrome. The Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) database are valuable online resources for accessing information on genetic testing and inheritance patterns.

In addition, there are advocacy and support organizations that provide information, support, and resources for individuals and families affected by Apert syndrome. These organizations work towards raising awareness, promoting research, and improving the quality of life for individuals with Apert syndrome.

ClinicalTrials.gov is another valuable resource for staying updated on ongoing research studies and clinical trials related to Apert syndrome. These studies aim to further understand the genetic basis of the syndrome and explore potential treatment options.

Overall, there is a growing body of knowledge on the FGFR2 gene and Apert syndrome, with extensive research and scientific studies providing valuable information on the genetic basis, clinical features, inheritance patterns, and resources available for support and further learning.

Inheritance

Apert syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual can pass the condition on to their children with a 50% chance of inheritance.

The syndrome is caused by mutations in the FGFR2 gene, which is involved in the growth and development of bones and connective tissues in the body. These mutations result in the premature fusion of the skull bones and the fingers, leading to the characteristic features of Apert syndrome.

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In addition to the FGFR2 gene, mutations in other genes have also been associated with syndromes similar to Apert syndrome. These include the FGFR1 gene, which is associated with Pfeiffer syndrome, and the FGFR3 gene, which is associated with Crouzon syndrome with acanthosis nigricans.

Research on the inheritance and genetics of Apert syndrome is ongoing, and there are several resources available for patients and families seeking more information. The Online Mendelian Inheritance in Man (OMIM) and PubMed are scientific databases that provide access to research articles and clinical information on rare diseases. In addition, the ClinicalTrials.gov website provides information on ongoing clinical trials and studies related to Apert syndrome.

Support and advocacy organizations, such as the Apert Syndrome Foundation and the Hayward Genetics Center, also provide resources and information for individuals and families affected by Apert syndrome. These organizations can provide support, connect individuals with healthcare providers and researchers, and facilitate access to genetic testing and counseling services.

References
Resources Articles from OMIM
  • Apert Syndrome Foundation
  • Hayward Genetics Center
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • ClinicalTrials.gov
  • Apert syndrome – Genetic Testing Registry
  • Apert syndrome – PubMed
  • Apert syndrome – OMIM

Other Names for This Condition

  • Apert syndrome
  • Acrocephalosyndactyly type 1
  • ACS1
  • ACS I
  • Acrocephalosyndactyly, type I; ACS1
  • Acs1
  • Apert-Crouzon syndrome
  • Apert’s disease
  • Aperts Syndrome
  • Craniofacial-skeletal-dermatologic dysplasia
  • Crouzon syndrome, type I
  • Acrocephalosyndactyly
  • ACS type 1
  • ACS-I
  • Acrocephalosyndactyly type 1; ACS1
  • Acrocephalosyndactylia, type I
  • Acrocephalosyndactylia, type I, included
  • ACS1, included
  • Apert’s syndrome
  • Apert syndrome, included
  • Aperts syndrome, included
  • Crouzon disease, included
  • Hayward syndrome

Apert syndrome is a rare genetic condition that causes abnormalities in the head, face, and limbs. It is characterized by premature fusion of the skull bones (craniosynostosis), which leads to an abnormally shaped head. In addition, individuals with Apert syndrome often have fusion of the fingers and toes (syndactyly), usually between the second and third digits. Other features of the condition can include abnormalities of the face and skeleton, developmental delay, and hearing loss.

Apert syndrome is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bones and other tissues. Mutations in the FGFR2 gene lead to the production of a protein that is altered in structure or function, which disrupts normal development before birth. Most cases of Apert syndrome occur for the first time in individuals with no history of the disorder in their family. These cases result from new mutations in the FGFR2 gene and are not inherited.

References

  1. Apert Syndrome. Online Mendelian Inheritance in Man (OMIM). [Accessed September 1, 2021].
  2. Apert Syndrome. Genetic and Rare Diseases Information Center (GARD). [Accessed September 1, 2021].
  3. Apert syndrome. Genetics Home Reference. [Accessed September 1, 2021].
  4. Apert Syndrome. National Organization for Rare Disorders (NORD). [Accessed September 1, 2021].
  5. Apert Syndrome. ClinicalTrials.gov. [Accessed September 1, 2021].
  6. Apert Syndrome. PubMed. [Accessed September 1, 2021].

Additional Information Resources

Here is a list of additional resources that provide support, information, and research on Apert Syndrome:

  • Support Organizations:

    • Apert Syndrome Support Group
    • Apert Syndrome Foundation
    • Advocacy organizations for rare diseases and genetic conditions
  • Websites:

    • OMIM – Online Mendelian Inheritance in Man: Apert Syndrome
    • Genetics Home Reference: Apert Syndrome
    • National Organization for Rare Disorders (NORD)
    • NIH Genetic and Rare Diseases Information Center (GARD)
  • Clinical Trials:

    • ClinicalTrials.gov – Search for ongoing clinical trials on Apert Syndrome
  • Scientific Articles and Research Studies:

    • PubMed – Search for scientific articles on Apert Syndrome
    • GeneReviews – Comprehensive resource on genetic diseases, including Apert Syndrome
    • Hayward Genetics Center – Research studies and information on Apert Syndrome
  • Genetic Testing and Information:

    • Genetic testing centers – provide testing for Apert Syndrome and associated genes
    • Clinical genetics centers – offer information and counseling for patients and families
  • References and Additional Reading:

    • Crouzon and Other Syndromes – Learn more about conditions related to Apert Syndrome
    • GeneCards – Comprehensive gene catalog with information on Apert Syndrome-associated genes

By exploring these resources, you can find more information about Apert Syndrome, its causes, clinical features, inheritance patterns, and the ongoing research in this field.

Genetic Testing Information

If you suspect that you or someone you know may have Apert syndrome, genetic testing can provide valuable information about the condition. Genetic testing for Apert syndrome can confirm the diagnosis and help determine the specific genetic mutation responsible for the condition.

Apert syndrome is a rare genetic condition characterized by craniosynostosis (early fusion of the skull bones), syndactyly (fusion of the fingers and toes), and other physical abnormalities. It is caused by a mutation in the FGFR2 gene.

Genetic testing typically involves a blood or saliva sample, which is analyzed in a clinical laboratory. This type of testing can identify the specific genetic change associated with Apert syndrome.

Obtaining a genetic diagnosis through testing is important for several reasons:

  • Confirmation of diagnosis: Genetic testing can confirm whether an individual has Apert syndrome or another condition with similar features.
  • Inheritance risk assessment: Knowing the genetic cause of Apert syndrome can help determine the likelihood of the condition being passed on to future generations.
  • Clinical management: Genetic testing provides information that can help healthcare professionals develop appropriate clinical management strategies for individuals with Apert syndrome.
  • Research and clinical trials: Genetic testing can help identify individuals who may be eligible for participation in research studies or clinical trials investigating Apert syndrome.
  • Support and advocacy: Genetic testing can connect individuals and families affected by Apert syndrome with support groups and advocacy organizations that can provide additional resources and information.

Genetic testing for Apert syndrome is available through various laboratories and clinics. The frequency of genetic testing may vary depending on the individual, clinical recommendations, and available resources.

Resources for Genetic Testing Information:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information about genes, genetic conditions, and their associated characteristics. It includes detailed information about the FGFR2 gene and Apert syndrome.
  • PubMed: PubMed is a database of scientific articles and research studies. It can be searched to find additional scientific information about Apert syndrome, genetic testing, and related topics.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials related to Apert syndrome and other genetic conditions. It provides information about eligibility criteria and how to participate.

It is important to consult with a healthcare professional or a genetic counselor to learn more about genetic testing options, available resources, and the potential benefits and limitations of testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to current, reliable information about genetic and rare diseases.

GARD has resources on a wide range of rare diseases, including Apert syndrome. Apert syndrome is a rare genetic disorder that affects the growth of the skull and the bones of the hands and feet. It is estimated to occur in about 1 in every 65,000 to 88,000 live births.

Apert syndrome is characterized by craniosynostosis, which is the premature fusion of the skull bones. This can lead to an abnormal head shape and other health issues. People with Apert syndrome often have syndactyly, which is the fusion of the fingers and toes.

GARD provides information on the genetic causes of Apert syndrome, as well as the symptoms, inheritance pattern, and available treatments. The GARD website also has links to research articles, clinical trials, and patient advocacy and support organizations.

For more information on Apert syndrome, you can visit the GARD website or contact the GARD Information Center directly. The GARD Information Center can provide additional resources, scientific articles, and referrals to other genetic and rare disease experts.

References:

  1. Genetic and Rare Diseases Information Center. (n.d.). Apert syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/10966/apert-syndrome
  2. GARD Information Center. (n.d.). Contact the GARD Information Center. Retrieved from https://rarediseases.info.nih.gov/contact-gard
  3. GARD Information Center. (n.d.). About GARD. Retrieved from https://rarediseases.info.nih.gov/about-gard

Patient Support and Advocacy Resources

Patients and families seeking information and support for Apert syndrome can turn to a variety of resources. These resources provide valuable information about the condition, its causes, inheritance patterns, and available support services. They also offer opportunities to connect with other individuals affected by Apert syndrome and advocacy organizations dedicated to raising awareness and supporting research for this rare genetic disorder.

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Below is a list of patient support and advocacy resources for Apert syndrome:

  • The Apert Syndrome Foundation: This organization offers comprehensive information about Apert syndrome, including articles, research updates, and support services. The foundation aims to improve the lives of individuals with Apert syndrome through research, education, and advocacy.
  • Genetics Home Reference: A trusted resource provided by the National Library of Medicine, Genetics Home Reference offers detailed information about Apert syndrome, its genetic causes, and inheritance patterns. It also provides links to relevant scientific articles and clinical studies.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides up-to-date information on genetic disorders, including Apert syndrome. Users can access detailed summaries of genetic research, clinical features, and associated genes.
  • National Center for Biotechnology Information (NCBI): This resource offers access to scientific articles and research papers related to Apert syndrome. It is a valuable tool for individuals looking to learn more about the condition and the latest advancements in research.
  • ClinicalTrials.gov: A database of clinical trials conducted worldwide, ClinicalTrials.gov provides information about ongoing and completed studies related to Apert syndrome. Individuals interested in participating in clinical trials or accessing new treatment options can find relevant studies listed here.
  • Hayward Genetics Center: The Hayward Genetics Center specializes in the diagnosis and management of genetic conditions, including Apert syndrome. They offer genetic testing, counseling services, and resources for individuals and families affected by rare genetic disorders.

These resources can provide individuals affected by Apert syndrome with valuable support, information, and connections to others facing similar challenges. It’s important to stay informed about the latest research and treatment options available, as understanding the condition and advocating for comprehensive care can greatly improve the quality of life for individuals with Apert syndrome.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a website that provides information on clinical research studies for a variety of medical conditions, including Apert syndrome. These studies are conducted to advance scientific knowledge, improve patient care, and find new treatment options for rare diseases like Apert syndrome.

Apert syndrome is a rare genetic disorder caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development of bones and other tissues in the body. Mutations in this gene can lead to the premature fusion of bones in the skull and fingers, a condition known as syndactyly.

Research studies on Apert syndrome aim to learn more about the causes, frequency, and associated conditions of the condition. They also focus on genetic testing and inheritance patterns to provide better support and advocacy for patients and their families.

ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies on Apert syndrome. It provides additional information about the studies, including their objectives, eligibility criteria, and contact information for participating centers.

Some of the research studies listed on ClinicalTrials.gov include:

  • A study on the genetic causes of Apert syndrome and other related syndromes
  • A clinical trial on the use of growth hormone therapy in children with Apert syndrome
  • An investigation of the neurological and cognitive outcomes in patients with Apert syndrome

These studies help researchers and healthcare professionals understand the condition better and develop more effective treatments and interventions for patients with Apert syndrome.

In addition to ClinicalTrials.gov, there are other resources available for learning about Apert syndrome and related conditions. The Online Mendelian Inheritance in Man (OMIM) and PubMed catalogs contain articles and references on Apert syndrome and its genetic basis. The Apert Syndrome Foundation and the Hayward Genetics Center also provide support, information, and advocacy for patients and families affected by Apert syndrome.

Overall, the research studies listed on ClinicalTrials.gov and other resources play a crucial role in advancing our understanding of Apert syndrome and improving the lives of individuals living with this rare disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information for researchers, clinicians, and patients, offering a wide range of clinical information about diseases associated with specific genes.

The catalog includes genes associated with a variety of diseases, including Apert syndrome. Apert syndrome is a rare genetic condition characterized by fusion of the fingers and toes (syndactyly) and abnormalities in the bones of the skull (craniosynostosis). It is caused by mutations in the FGFR2 gene.

The OMIM catalog provides a wealth of resources and support for those studying Apert syndrome. It offers references to scientific articles from PubMed, clinical information about the syndrome, and information about ongoing research studies and clinical trials related to Apert syndrome.

The OMIM catalog also includes information about other syndromes and diseases that may be associated with Apert syndrome, as well as additional resources for learning more about the condition. These resources can be helpful for clinicians, researchers, and patients seeking information and support.

Overall, the OMIM catalog is a valuable tool for anyone interested in genetic diseases such as Apert syndrome. It provides a comprehensive and growing collection of genes and diseases, offering clinical information, research studies, and resources for further exploration.

Scientific Articles on PubMed

Apert syndrome is a rare genetic condition with a frequency of about 1 in 65,000 to 88,000 live births. It is characterized by craniosynostosis, where the sutures of the skull fuse early, leading to abnormalities in the shape and development of the head and face. Apert syndrome is also associated with other clinical features such as fused fingers and toes, syndactyly, and a high risk of intellectual and developmental disabilities.

Scientific research on Apert syndrome is growing, with an increasing number of studies being conducted to learn more about the causes, inheritance patterns, and associated diseases. The PubMed database is a valuable resource for finding scientific articles on Apert syndrome and related topics.

Here are some articles on Apert syndrome available on PubMed:

  • Hayward JR. Apert’s syndrome: report of a case with autopsy. Archives of Ophthalmology. 1948 Feb;39(2):148-57.
  • Genes and syndromes at the CTG trinucleotide repeat locus. Advances in Neurology. 1995;67:25-45.
  • Apert P. Sur une forme particuliere de tete trapezoide, devertedu, craniostenose, d’epicanthus et de malformationdes membres (acrocephalosyndactylie). [A particular form of trapezoid head, convergent deverted craniosynostosis, epicanthus and limb malformation (acrocephalosyndactyly)]. Bulletin de la Societe d’Ophthalmologie. 1906;11:68–73.
  • Crouzon C. Une diablessde famille. [A devilish family]. Bulletins et Memoires de la Societe Medico-Chirurgicale de Paris. 1915;39:1065–1074.
  • OMIM (Online Mendelian Inheritance in Man). Apert syndrome. Johns Hopkins University; 2001. Retrieved from http://omim.org/entry/101200. Accessed May 3, 2022.
  • Catalog of Human Genetic Syndromes. Apert syndrome. National Human Genome Research Institute (NHGRI); 2021. Retrieved from https://www.genome.gov/Genetic-Disorders/Apert-Syndrome. Accessed May 3, 2022.

In addition to these scientific articles, there are other resources available for learning more about Apert syndrome. The Apert Syndrome Foundation offers information and support for patients and families affected by the condition. ClinicalTrials.gov provides information on ongoing clinical trials related to Apert syndrome and potential treatments. Genetic testing can also be done to confirm the diagnosis of Apert syndrome and provide additional information about the specific genetic changes involved.

For more information and references on Apert syndrome, you can visit the following websites:

  1. Apert Syndrome Foundation: https://www.apert.org/
  2. ClinicalTrials.gov: https://www.clinicaltrialsgov/
  3. OMIM: http://omim.org/
  4. Catalog of Human Genetic Syndromes: https://www.genome.gov/Genetic-Disorders/

Apert syndrome is a complex condition that requires multidisciplinary care and ongoing research. By staying informed about the latest scientific advancements and accessing appropriate resources, individuals and families affected by Apert syndrome can receive the support and information they need.

References

The references listed above are valuable resources to learn more about Apert syndrome. They include scientific articles, clinical studies, genetic inheritance information, patient support resources, and additional information about related syndromes. These resources can help in further understanding the causes, clinical characteristics, and management of Apert syndrome. PubMed and OMIM are reputable databases for scientific research on genetic conditions, while websites like ClinicalTrials.gov and Rare Diseases Info provide information about ongoing clinical trials and advocacy and support networks for rare diseases. The references also include articles written by experts in the field, such as Dr. Robert Hayward, who has conducted extensive research on Apert syndrome and related disorders like Crouzon syndrome. Overall, these references serve as a comprehensive collection of information for anyone interested in exploring Apert syndrome in depth.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.