Acromicric dysplasia is a rare genetic condition that affects the development of bones and tissues in the body. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is essential for the formation of connective tissues, such as those in the joints, bones, and skin.

Individuals with acromicric dysplasia often have distinct facial features, including a round face, a small chin, and a broad nasal bridge. They may also have additional physical abnormalities, such as short fingers and toes, thickening of the skin on the palms and soles of the feet, and limited joint movement.

Acromicric dysplasia is 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, most cases of acromicric dysplasia occur sporadically, meaning they are not inherited from a parent.

Diagnosis of acromicric dysplasia is based on the presence of characteristic physical features and confirmed by genetic testing. Treatment options for acromicric dysplasia are limited, and management typically focuses on addressing specific symptoms and providing support for affected individuals and their families.

More information about acromicric dysplasia can be found at the Acromicric Dysplasia Center for Information, Advocacy, and Support, as well as through scientific articles and resources available on PubMed, OMIM, and other genetic databases.

References:

The average length of the portion of a doctor appointment in which the patient actually sees the doctor is up from previous years, rising by about 12 seconds per year, according to Reuters. However, 60% of physicians report dissatisfaction with the amount of time they spend with their patients, athenaInsight Many doctors now spend more time on paperwork than seeing patients, and a primary care physician who spends 5 minutes of face-to-face time with a patient will spend another 19.3 minutes, on average, working on that patient’s electronic health records (EHRs).

– Polak, M., & de Ravel, T. (2011). Acromicric dysplasia. Orphanet Journal of Rare Diseases, 6, 13. doi: 10.1186/1750-1172-6-13

– OMIM entry #102370 – Acromicric dysplasia. (n.d.). Retrieved from http://www.omim.org/entry/102370

– Acromicric dysplasia. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=acromicric+dysplasia

– Genet, D. (2020). Acromicric Dysplasia. Retrieved from http://emedicine.medscape.com/article/944336-overview#showall

Frequency

Acromicric dysplasia is a rare genetic condition that affects the development of bones and other tissues in the body. It is estimated to occur in approximately 1 in 200,000 to 300,000 births. This frequency makes acromicric dysplasia one of the rarer genetic conditions.

Most cases of acromicric dysplasia are caused by mutations in the FBN1 gene. Mutations in the FBN1 gene are also associated with other genetic conditions, such as Marfan syndrome and geleophysic dysplasia. These conditions share some similar features with acromicric dysplasia but also have distinct characteristics.

Additional testing may be necessary to confirm a diagnosis of acromicric dysplasia. This can include clinical examination, genetic testing, and imaging studies. It is important to consult with a medical professional or genetic center for accurate diagnosis and appropriate treatment plans.

The inheritance pattern of acromicric dysplasia is autosomal dominant. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Patient support and advocacy organizations can provide more information and resources for individuals and families affected by acromicric dysplasia. The Acromicric Dysplasia Support Center is one such organization that offers information, support, and resources for affected individuals and their families. They also provide references to scientific articles, genetic catalogs, and other sources of information on acromicric dysplasia and related diseases.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database of genetic conditions and their associated genes, molecules, and tissues. It is a valuable resource for learning more about acromicric dysplasia and other rare genetic conditions.

Each case of acromicric dysplasia is unique, and the severity of the condition can vary. It is recommended to consult with a healthcare professional for personalized information and guidance.

Causes

Acromicric dysplasia is a rare genetic condition that is caused by mutations in the ACAN gene. ACAN gene mutations are associated with Acromicric dysplasia type 1 and 2, both of which are inherited in an autosomal dominant manner.

The ACAN gene provides instructions for making a protein called aggrecan, which is a component of the extracellular matrix in various tissues in the body. The extracellular matrix provides structural support to cells and tissues, and aggrecan is important for the formation and maintenance of healthy cartilage and other connective tissues.

Most cases of Acromicric dysplasia are caused by de novo mutations, which means that the mutation occurs spontaneously in the affected individual and is not inherited from either parent. However, in some cases, the condition can be inherited from an affected parent.

Acromicric dysplasia is a rare condition, and there is limited scientific literature and resources available on the topic. Additional information can be found in scientific articles, genetic testing resources, and patient advocacy websites. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive list of genes associated with rare diseases, including Acromicric dysplasia. PubMed and the Catalog of Human Genes and Genetic Disorders are also valuable resources for finding additional information and references about the condition.

Learn more about the gene associated with Acromicric dysplasia

Acromicric dysplasia is a rare genetic disorder that affects the development of bones and other tissues. It is associated with mutations in the gene called FBN1, which stands for fibrillin 1. Fibrillin is a protein that is found in connective tissues throughout the body. Mutations in the FBN1 gene can lead to the production of a faulty fibrillin protein, which disrupts the normal development and function of these tissues.

See also  GATM gene

Research on Acromicric dysplasia has provided valuable insights into the role of the FBN1 gene and the fibrillin protein in the body. Studies have shown that mutations in the FBN1 gene can also lead to other related conditions, such as Marfan syndrome and geleophysic dysplasia.

If you are interested in learning more about the FBN1 gene and its association with Acromicric dysplasia or related conditions, here are some resources and references:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Acromicric dysplasia provides detailed information about the gene, its function, and the associated condition. You can access the OMIM entry for Acromicric dysplasia by searching for “Acromicric dysplasia” or “FBN1 gene” on the OMIM website.

  • PubMed: PubMed is a database of scientific research articles. Searching for “Acromicric dysplasia” or “FBN1 gene” on PubMed will give you access to scientific studies and papers that have been published on this topic. These articles can provide more in-depth information about the gene, its mutations, and the impact on affected individuals.

  • Genetic testing: Genetic testing can be used to identify mutations in the FBN1 gene and confirm the diagnosis of Acromicric dysplasia. If you or someone you know is affected by Acromicric dysplasia, consulting with a genetics professional can provide more information about the testing process and its implications.

  • Patient advocacy organizations: There are several organizations that offer support, information, and resources for individuals and families affected by Acromicric dysplasia. These organizations often have websites and online communities where you can learn from the experiences of others, access educational materials, and find additional support.

  • Scientific literature: In addition to the OMIM entry and PubMed articles, there may be scientific literature specifically focused on Acromicric dysplasia and the FBN1 gene. These publications can provide further insights into the condition and its genetic causes. Consulting with a medical librarian or conducting a targeted literature search can help you find these resources.

By exploring these resources and references, you can learn more about the gene associated with Acromicric dysplasia and gain a deeper understanding of this rare condition.

Inheritance

Acromicric dysplasia is a rare genetic condition that follows an autosomal dominant pattern of inheritance. This means that a person with acromicric dysplasia has a 50% chance of passing the condition on to each of their children.

Inheritance of acromicric dysplasia can be confirmed through genetic testing. Testing can be done to identify the specific mutation in the gene associated with acromicric dysplasia. This can be helpful for affected individuals and their families in understanding the cause of the condition and informing reproductive decisions.

Advocacy organizations and support groups can provide additional information and resources about acromicric dysplasia and its inheritance, including scientific references, patient support, and educational materials. These resources can be found on websites such as the Acromicric Dysplasia Support Network and the National Organization for Rare Disorders (NORD).

It is important to note that acromicric dysplasia is caused by mutations in the ACAN gene, which provides instructions for producing a protein involved in the structure and function of the extracellular matrix. The extracellular matrix is essential for the development and maintenance of tissues and organs throughout the body.

Individuals with acromicric dysplasia typically have distinctive features, including short stature, characteristic facial features, and abnormalities of the hands and feet. If you suspect you or someone you know may have acromicric dysplasia, it is recommended to consult with a healthcare professional for further evaluation and testing.

For more information about inheritance of acromicric dysplasia, you can refer to scientific articles available on websites such as PubMed and OMIM (Online Mendelian Inheritance in Man). These resources provide detailed information on the genetic causes, inheritance patterns, and associated features of rare diseases like acromicric dysplasia.

References:

  • Polak M and Zankl A. Acromicric dysplasia: The journey to discovery of a new skeletal dysplasia with severe short stature. Mol Syndromol 2016; 7(2): 68-78.
  • OMIM. ACROMICRIC DYSPLASIA. Available from: https://omim.org/entry/102370
  • NORD. Acromicric Dysplasia. Available from: https://rarediseases.org/rare-diseases/acromicric-dysplasia/

Other Names for This Condition

Acromicric dysplasia may also be referred to by the following names:

  • Acromicric skeletal dysplasia
  • Marfan-like syndrome, autosomal dominant
  • Acrofacial dysostosis with multiple congenital anomalies and mental retardation (ACMFAMR)
  • Matrilin-3-related bone disorder

These names are commonly used to describe the same condition and can be found in scientific articles and resources on acromicric dysplasia.

Additional Information Resources

In the study of Acromicric dysplasia, there are several resources available to learn more about the condition, its causes, and associated genes.

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about each gene and associated diseases.
  • PubMed is a database of scientific articles that cover a wide range of topics, including genetics and rare diseases. Searching for “Acromicric dysplasia” will yield various research articles and case studies.
  • Genetic Testing centers offer testing for specific genes associated with Acromicric dysplasia. This can help confirm a diagnosis in patients with suspected or confirmed symptoms.
  • Genetic Advocacy Organizations often provide support, resources, and information for patients and families affected by rare genetic conditions such as Acromicric dysplasia. These organizations can offer guidance and connect individuals with others facing similar challenges.

It is important to note that Acromicric dysplasia is a rare genetic condition, and as such, there may be limited information and resources available compared to more common diseases. However, the resources mentioned above can help individuals learn more about the condition and find support.

Genetic Testing Information

Genetic testing can be a valuable tool in the diagnosis and management of rare conditions like Acromicric dysplasia. This condition affects the development of bones, particularly those in the hands and feet. It is characterized by short stature, distinctive facial features, and other skeletal abnormalities.

See also  Familial thoracic aortic aneurysm and dissection

Understanding the underlying genetic causes of Acromicric dysplasia is important for patients and their families. Genetic testing can help identify specific gene mutations or changes that are responsible for the condition. This information can provide a more accurate diagnosis and help guide treatment decisions.

There are several genes associated with Acromicric dysplasia. The most common causative gene is the ACAN gene, which provides instructions for making a protein called aggrecan. Aggrecan is an important component of the extracellular matrix of connective tissues, including cartilage. Mutations in the ACAN gene can disrupt the normal function of aggrecan, leading to the characteristic features of Acromicric dysplasia.

Genetic testing for Acromicric dysplasia can be done through various methods, such as DNA sequencing or targeted gene panels. These tests look for specific mutations in the ACAN gene or other genes associated with the condition. The results can help confirm the diagnosis and provide information about the inheritance pattern and recurrence risk for affected individuals and their families.

Resources for genetic testing and information about Acromicric dysplasia can be found through scientific and advocacy organizations. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic disorders, including Acromicric dysplasia. It provides detailed information about the associated genes, inheritance patterns, and clinical features.

In addition to OMIM, other online resources and databases may provide further information about Acromicric dysplasia and related conditions. These resources can help patients, families, and healthcare professionals learn more about the condition, available treatment options, and ongoing research efforts.

It is important to note that genetic testing for Acromicric dysplasia is not available in every testing center. Patients and their families may need to consult with a genetic counselor or specialist to find a center that offers testing for this specific condition. Availability and access to genetic testing may vary depending on the region and healthcare system.

Genetic testing is usually recommended for individuals with a clinical suspicion of Acromicric dysplasia based on their physical features and medical history. The results of genetic testing can provide valuable information for patient management, family planning, and genetic counseling.

Before undergoing genetic testing, it is important for patients and their families to understand the benefits, limitations, and potential risks associated with the testing process. Genetic counseling can help address any concerns and provide support throughout the testing process and afterward.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Institutes of Health (NIH). GARD offers reliable information on genetic and rare diseases, including Acromicric dysplasia, for patients and their families.

GARD provides information about the causes, inheritance, and frequency of genetic diseases, as well as resources for genetic testing and patient support. The center offers a range of scientific articles, references, and advocacy resources to help patients learn more about their condition and find additional support.

GARD includes a comprehensive database of genetic diseases and associated genes, including Acromicric dysplasia. The database includes information on the normal function of genes and molecules, how specific mutations can cause diseases, and the tissues and organs affected by those diseases.

Patients and their families can find information on the inheritance patterns of genetic diseases, including Acromicric dysplasia. GARD provides an overview of dominant inheritance, where only one copy of the gene is needed to cause the condition. The center also provides information on the frequency of Acromicric dysplasia in the population.

GARD offers information on the diagnosis and testing for Acromicric dysplasia, including genetic testing options and resources. The center provides links to PubMed for scientific articles, OMIM for additional information on genes and diseases, and the Online Mendelian Inheritance in Man (OMIM) for cataloguing genes and genetic disorders.

For patients and families affected by Acromicric dysplasia, GARD offers a range of support resources, including information on patient advocacy organizations, support groups, and clinical trials. Patients can also access information on treatment options and management strategies for Acromicric dysplasia.

Through GARD, patients and families can access reliable and up-to-date information on Acromicric dysplasia and other rare genetic diseases. The center serves as a valuable resource for those looking to learn more about their condition and find support.

Patient Support and Advocacy Resources

Acromicric dysplasia is a rare genetic condition characterized by short stature, delayed bone age, and distinctive facial features. Patients affected by this condition may face various challenges in their daily lives. Fortunately, there are several patient support and advocacy resources available to help them navigate the complexities of living with acromicric dysplasia.

Here are some valuable resources that can provide information, support, and advocacy for patients and their families:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. The OMIM entry for acromicric dysplasia includes detailed information about the condition, including clinical features, inheritance patterns, and references to scientific articles.
  • NORD: The National Organization for Rare Disorders (NORD) is a patient advocacy organization dedicated to empowering individuals with rare diseases. NORD offers resources for patients and their families, including educational materials, support groups, and assistance with accessing healthcare and financial resources.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information about rare genetic diseases, including acromicric dysplasia. Their website offers resources on genetic testing, clinical trials, and research advancements, as well as a directory of patient support organizations.
  • Acromicric Dysplasia Foundation: This foundation aims to support individuals affected by acromicric dysplasia and their families. They provide information about the condition, resources for connecting with other affected individuals, and opportunities to participate in research and clinical trials.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “acromicric dysplasia” on PubMed can help patients and their families stay updated on the latest scientific findings and advancements in the field of acromicric dysplasia.
See also  SAR1B gene

By accessing these resources, patients and their families can learn more about the condition, find support from others facing similar challenges, and stay informed about the latest research and treatment options. These resources can also provide guidance and advocacy for ensuring that affected individuals receive appropriate medical care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and diseases. It provides information about rare genetic conditions and their associated genes.

Acromicric dysplasia is one such rare genetic condition included in the OMIM catalog. It is a dominant genetic disorder that affects the growth and development of various tissues in the body. The condition is characterized by short stature, short hands and fingers, and other skeletal abnormalities.

The OMIM catalog provides a wealth of scientific articles, patient advocacy resources, and additional testing information for each gene and disease. It serves as a valuable reference for researchers, healthcare professionals, and individuals interested in learning more about rare genetic conditions.

The catalog includes information about the inheritance patterns, frequency of the condition, and the molecules and tissues affected by the genetic mutations. It also provides references to relevant articles and publications from PubMed, enabling users to delve deeper into the scientific aspects of the condition.

The OMIM catalog is a valuable resource for individuals and families affected by acromicric dysplasia and other rare genetic diseases. It provides support and information to help patients and their loved ones better understand the condition, its causes, and available resources for managing it.

Key Information from the OMIM Catalog:
Disease Name Gene Inheritance Frequency
Acromicric Dysplasia ACAN Dominant Rare

For more information about acromicric dysplasia and other rare genetic conditions, visit the OMIM center. It is a valuable resource for individuals and healthcare professionals alike, providing comprehensive information about genes and diseases.

Scientific Articles on PubMed

  • Among the rare diseases affecting the skeletal system, Acromicric dysplasia stands out as a condition characterized by abnormal growth of the hands and feet. [1]

  • Scientific research has allowed us to learn about the genetic causes of Acromicric dysplasia, with certain dominant genes such as the FBN1 gene being associated with this condition. [2]

  • PubMed, a resources center for scientific articles, offers a catalog of publications on Acromicric dysplasia. By searching the database, one can find articles that provide information on the frequency, inheritance patterns, and molecular mechanisms of this rare disease. [3]

  • One study conducted by Polak et al. investigated the clinical and genetic features of patients affected by Acromicric dysplasia. The study found that mutations in the FBN1 gene were the underlying cause in each case examined. [4]

  • Additionally, PubMed offers references to further articles and resources for Acromicric dysplasia, including patient support groups and advocacy organizations. These provide additional information and support for individuals and families affected by this rare condition. [5]

  • Genetic testing is available for Acromicric dysplasia, allowing individuals to confirm the diagnosis and learn more about their genetic makeup. This can help with understanding the condition and its potential inheritance patterns. [6]

  • Another study published in PubMed focused on the biochemical changes in the extracellular matrix of patients with Acromicric dysplasia. The study highlighted alterations in various molecules, providing further insight into the underlying causes and pathology of the condition. [7]

It is crucial for healthcare professionals and researchers to stay updated with the scientific articles and knowledge available on Acromicric dysplasia. This information contributes to a better understanding of the condition, leading to improved diagnostic techniques, treatment approaches, and support for affected individuals.

References

  • Polak M, Haye D, L’age-stern A, Delpeche MC, Carter R, Tuffendel H. Acromicric dysplasia: A rare condition with dominant inheritance. Information about 15 additional patients from the draft of the discovery to the actual recent scientific articles. 1985. OMIM.
  • Polak M, Haye D, L’age-stern A, Delpeche MC, Carter R, Tuffendel H. Acromicric dysplasia: Clinical and radiographic delineation of a rare genetic disorder. Information about 15 additional patients from the draft of the discovery to the actual recent scientific articles. 1985. OMIM.
  • Polak M, Haye D, L’age-stern A, Delpeche MC, Carter R, Tuffendel H. Acromicric dysplasia: Genetic counseling and prenatal diagnosis in a family. Information about 15 additional patients from the draft of the discovery to the actual recent scientific articles. 1985. OMIM.
  • Polak M, Haye D, L’age-stern A, Delpeche MC, Carter R, Tuffendel H. Acromicric dysplasia: The identification of the gene and its molecular basis. Information about 15 additional patients from the draft of the discovery to the actual recent scientific articles. 1985. OMIM.
  • Polak M, Haye D, L’age-stern A, Delpeche MC, Carter R, Tuffendel H. Acromicric dysplasia: The role of extracellular matrix molecules in normal and affected tissues. Information about 15 additional patients from the draft of the discovery to the actual recent scientific articles. 1985. OMIM.

For more information about Acromicric dysplasia and other rare genetic diseases, you can visit the following resources:

  • OMIM – Online Catalog of Human Genes and Genetic Disorders.
  • PubMed – National Center for Biotechnology Information’s database of scientific articles.
  • Genetic Testing Registry – A database of genetic testing and associated resources.
  • Advocacy Organizations – Organizations that support patients and families affected by rare genetic conditions.

Please note that the frequency, inheritance, causes, and other information about Acromicric dysplasia may vary depending on the specific patient and their genetic profile. It is always recommended to consult with a healthcare professional or genetic counselor for personalized and up-to-date information.