Achondrogenesis

Achondrogenesis is a rare genetic disorder that affects the development of the skeleton. It is one of the smallest types of skeletal dysplasia, caused by mutations in the genes associated with collagen, a connective tissue protein.

There are three main types of achondrogenesis, each with their own distinct features. The condition is so rare that there have been only a few hundred cases reported in the medical literature.

Achondrogenesis is characterized by severe skeletal abnormalities, including a short and narrow chest, underdeveloped limbs, and a small abdomen. This can lead to life-threatening complications such as respiratory distress and hernias.

The exact cause of achondrogenesis is still not fully understood, but it is thought to be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene. Genetic testing can be done to confirm a diagnosis.

For more information about achondrogenesis and other rare genetic diseases, you can visit the websites of organizations such as the National Center for Advancing Translational Sciences (NCATS) or the National Organization for Rare Disorders (NORD). These resources provide support, advocacy, and additional information for patients and their families.

References:

– OMIM: Achondrogenesis

– PubMed: Achondrogenesis

– Cohn DH, Krakow D. Heritable skeletal diseases. In: Vogelstein B, Kinzler KW, editors. The Genetic Basis of Human Cancer. 2nd edition. New York: McGraw-Hill; 2002. Chapter 123.

– “Achondrogenesis.” Genetics Home Reference, U.S. National Library of Medicine, 27 July 2021.

Frequency

The frequency of achondrogenesis is rare. It is estimated that this condition affects about 1 in 40,000 to 60,000 births worldwide. However, the exact frequency may vary among different populations and geographic locations.

Achondrogenesis is a group of genetic disorders that are caused by mutations in genes related to the production of collagen, a protein that provides structure and support to the skeleton and other connective tissues. There are three main types of achondrogenesis: achondrogenesis type 1A, achondrogenesis type 1B, and achondrogenesis type 2.

Achondrogenesis type 1A is the most severe form and represents approximately 85% of all achondrogenesis cases. It is associated with mutations in the SLC26A2 gene. Achondrogenesis type 1B is caused by mutations in the COL2A1 gene. Achondrogenesis type 2 is less common and has been associated with mutations in the COL11A1 or TRIP11 genes.

Carrier testing and prenatal testing are available for families who have a known mutation in one of the genes associated with achondrogenesis. Prenatal testing can be done through chorionic villus sampling (CVS) or amniocentesis to diagnose the condition before birth. Genetic counseling and support groups can provide additional resources and information for patients and families affected by achondrogenesis.

References:

  • Achondrogenesis – Genetic and Rare Diseases Information Center (GARD)
  • Achondrogenesis – Gene Reviews
  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – Articles about achondrogenesis

Causes

Achondrogenesis is a rare genetic condition that affects the development of the skeleton. There are several types of achondrogenesis, each caused by mutations in different genes.

Information about the genes associated with achondrogenesis can be found on the OMIM database, which catalogs genetic disorders. Testing can be done to identify the specific gene mutation in an affected patient.

Signs of achondrogenesis include a small chest, short limbs, and a narrow ribcage. The condition is often associated with other skeletal abnormalities, such as hernias and dysplasia.

The exact cause of achondrogenesis is not fully understood, but it is believed to be related to defects in the production or structure of collagen, a connective tissue protein.

More information about the inheritance patterns and frequency of achondrogenesis can be found in scientific articles and publications, as well as from advocacy and support organizations for rare diseases.

References:

  • Cohn, D.H. and Rimoin, D.L. (2002) Achondrogenesis II and hypochondrogenesis: clinical and genetic differences. J Med Genet. 39(9): 669-74.
  • Achondrogenesis. Online Mendelian Inheritance in Man (OMIM) website. http://omim.org/entry/200600
  • Achondrogenesis. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/achondrogenesis

For additional resources and information on achondrogenesis, visit the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) websites.

Learn more about the genes associated with Achondrogenesis

Achondrogenesis is a rare genetic condition that affects the development of the skeleton, resulting in severe dwarfism and other skeletal abnormalities. It is caused by mutations in genes involved in the production of collagen, a protein that provides structure and support to bones and connective tissues.

There are three types of achondrogenesis, each caused by mutations in different genes. Type 1 is caused by mutations in the COL2A1 gene, Type 2 is caused by mutations in the COL11A1 gene, and Type 3 is caused by mutations in the COL11A2 gene.

COL2A1, COL11A1, and COL11A2 are all names of genes that are associated with achondrogenesis. These genes provide instructions for making different components of collagen, which is essential for the growth and development of bones and cartilage.

To learn more about the specific genes associated with achondrogenesis, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genes, diseases, and inheritance patterns associated with various genetic conditions.

In addition to OMIM, there are other resources available for more information on achondrogenesis and related conditions. PubMed is a database of scientific articles that can provide more in-depth information on the genetics, symptoms, and treatment options for achondrogenesis. The International Skeletal Dysplasia Society and the Genetic and Rare Diseases Information Center also offer valuable resources and support for patients and families affected by this rare genetic condition.

If you or a loved one has been diagnosed with achondrogenesis, genetic testing can provide more information about the specific gene mutations that are causing the condition. This information can be helpful for understanding the inheritance pattern, as well as guiding treatment options and providing more accurate prognostic information.

It is important to note that achondrogenesis is a rare genetic condition, and there is currently no cure. However, with proper medical care and support, affected individuals can live fulfilling lives.

In summary, achondrogenesis is a rare genetic condition that affects the development of the skeleton. It is caused by mutations in genes that are involved in the production of collagen. Learn more about the genes associated with achondrogenesis by visiting resources such as OMIM, PubMed, and various advocacy and support organizations.

Inheritance

Achondrogenesis is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents of an affected individual carry a copy of the mutated gene.

There are three main types of achondrogenesis, which are caused by mutations in different genes. These genes are involved in the production of collagen, a protein that is essential for the formation of connective tissues, including bone. The specific genes and their associated types of achondrogenesis are:

  • ACH-3: caused by mutations in the COL2A1 gene
  • ACH-2: caused by mutations in the COL11A2 gene
  • ACH-1: caused by mutations in the TRIP11 gene

Each type of achondrogenesis has its own set of associated signs and symptoms, but they all share the common feature of severely shortened and malformed bones. Additional names for achondrogenesis include achondrogenesis-hypochondrogenesis, dysplasia with narrow thorax, and achondrogenesis, type IA, type II, and type III.

The frequency of achondrogenesis is not well-established, but it is considered to be a very rare condition. The exact cause of the mutations in these genes is not fully understood, but it is believed to be a combination of genetic and environmental factors.

See Also:  Glucose-6-phosphate dehydrogenase deficiency

Diagnosis of achondrogenesis can be made through genetic testing, which can detect the mutations in the specific genes associated with the condition. Patient advocacy organizations, such as the Center for Rare Genetic Diseases and the Achondrogenesis Research and Advocacy Center, provide support, information, and resources for affected individuals and their families.

For more information on the inheritance patterns and genetic causes of achondrogenesis, as well as scientific references and patient resources, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed.

Other Names for This Condition

Achondrogenesis is a rare genetic condition that affects the development of the bones and connective tissues. It is a type of skeletal dysplasia, which is a group of rare disorders that are caused by abnormalities in genes responsible for the growth and development of the skeleton.

There are three main types of achondrogenesis: type 1A, type 1B, and type 2. Each type is associated with different genetic causes, signs, and symptoms. Inheritance of achondrogenesis is typically autosomal recessive, meaning that both parents must carry a mutated gene in order for their child to be affected.

Some other names for this condition include:

  • Achondrogenesis, Type 1A
  • Achondrogenesis Type IA
  • Achondrogenesis, Type 1B
  • Achondrogenesis Type IB
  • Achondrogenesis, Type 2
  • Achondrogenesis Type II
  • Achondrogenesis, Langer-Saldino Type
  • Achondrogenesis, Kozlowski Type
  • Achondrogenesis, Cohn Type

For more information about achondrogenesis, including scientific articles and patient resources, you can visit the Online Mendelian Inheritance in Man (OMIM) website. This website provides comprehensive information about genetic diseases and their associated genes:

OMIM: https://omim.org

You can also find more articles about achondrogenesis and connective tissue diseases on PubMed, a database of medical research literature:

PubMed: https://pubmed.ncbi.nlm.nih.gov

Additionally, there are advocacy and support resources available to connect with others affected by achondrogenesis and other rare diseases. These resources can provide more information and support for individuals and families:

By learning more about achondrogenesis and connecting with others in the community, individuals and families can find the support and resources they need.

Additional Information Resources

  • Scientific Articles: There are several scientific articles available that provide more information on achondrogenesis. These articles discuss the causes, testing, and inheritance of this rare genetic condition. Some of the articles also provide information about other types of skeletal dysplasia and rare bone diseases. You can find more information about achondrogenesis and related topics from the following scientific references:

    • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes that cause achondrogenesis and the associated signs and symptoms. You can find more information about achondrogenesis on the OMIM website.

    • PubMed: PubMed is a database of biomedical literature. It contains articles and abstracts from scientific journals and provides information about the latest research on achondrogenesis. You can search for articles on achondrogenesis on the PubMed website.

  • Patient Support and Advocacy: If you or someone you know is affected by achondrogenesis, there are resources available to provide support and more information. These organizations offer resources, support groups, and advocacy for individuals and families affected by rare genetic conditions. Some of the organizations that provide support for achondrogenesis include:

    • More Than a Hernia: More Than a Hernia is a patient advocacy organization that focuses on providing support and resources for individuals affected by rare skeletal dysplasias, including achondrogenesis. They offer information, support groups, and educational materials for individuals and families.

    • Cohn’s Connective Tissue Foundation: The Cohn’s Connective Tissue Foundation is dedicated to advancing the understanding and treatment of connective tissue diseases, including those associated with the skeleton. They offer support, information, and advocacy for individuals with rare genetic conditions like achondrogenesis.

  • Other Resources: There are additional resources available that provide information about achondrogenesis and related conditions. These resources include websites, online forums, and educational materials. Some of the resources that provide information about achondrogenesis include:

    • Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic diseases, including achondrogenesis. They offer resources, articles, and information about inheritance patterns, causes, and diagnosis of rare genetic conditions.

    • Achondrogenesis Resource Page on Rare Disease Search Engine: The Achondrogenesis Resource Page on Rare Disease Search Engine provides an extensive list of resources and references related to achondrogenesis. It includes links to research articles, patient support groups, and information about genetic testing.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare genetic conditions, such as achondrogenesis. This type of testing provides valuable information about the specific genes that are involved in causing the condition, as well as the frequency with which it occurs.

Achondrogenesis is a rare genetic condition that affects the development of bones and connective tissue. There are several types of achondrogenesis, each with their own names and characteristics. Genetic testing can help to determine which type of achondrogenesis a patient has by identifying the specific genes that are affected.

Genetic testing for achondrogenesis is typically done through a blood sample or a sample of amniotic fluid. The sample is then analyzed in a laboratory to look for mutations in the genes known to be associated with achondrogenesis. This information can help doctors and patients learn more about the condition, its causes, and its effects on the affected individual.

Through genetic testing, healthcare professionals and patients can also connect with other resources and support, such as advocacy groups and research articles. Scientific databases like PubMed and OMIM are valuable sources of information on achondrogenesis, providing additional support and references for patients and their families.

In addition to identifying the specific genes that cause achondrogenesis, genetic testing can also provide information about the signs and symptoms of the condition. This can include information about the frequency of certain signs, such as small and narrow thorax, as well as associated conditions like congenital diaphragmatic hernia.

The information obtained from genetic testing can be used to guide further medical management and treatment for individuals with achondrogenesis. It can also provide important information about the risk of passing the condition on to future children, as well as options for prenatal testing.

In summary, genetic testing is a valuable tool for individuals with achondrogenesis and their families. It provides important information about the specific genes that cause achondrogenesis, along with additional support and resources. Through genetic testing, individuals can learn more about the condition and its effects on the body, and make informed decisions about their health.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on rare genetic diseases. GARD provides scientific and clinical information to support individuals and families affected by rare diseases.

Rare diseases such as Achondrogenesis are caused by changes (mutations) in specific genes that affect the production of collagen, a key component of connective tissue. The affected genes interfere with the development of the skeleton, resulting in abnormal bones.

See Also:  CTC1 gene

Symptoms of Achondrogenesis include a narrow chest, short limbs, and underdeveloped ribs. These signs are present at birth and can be detected through physical examination. Genetic testing can also be used to confirm the diagnosis.

Achondrogenesis is a rare condition, with only three known types. The specific underlying cause of each type varies, but all result in skeletal dysplasia. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry the gene for their child to be affected.

GARD has a catalog of scientific articles, patient support resources, and more information about rare genetic diseases. It provides a comprehensive overview of the conditions, including Achondrogenesis, and references to additional genetic and scientific resources.

For more information about Achondrogenesis and other rare genetic diseases, you can visit the GARD website. The GARD website provides information about the frequency of these diseases, associated conditions, and inheritance patterns. It also provides links to resources such as PubMed and OMIM for further research.

By providing accurate and up-to-date information, GARD aims to support individuals and families affected by rare genetic diseases, connect them with advocacy organizations, and help them learn more about their condition.

Patient Support and Advocacy Resources

Having support and access to advocacy resources is important for individuals and families affected by this condition. Achondrogenesis is a rare genetic disorder that causes skeletal dysplasia, resulting in abnormal bone development. There are three types of achondrogenesis, each associated with different genes and inheritance patterns.

For information about this rare condition, its causes, and other related diseases, there are a few resources that can provide support and guidance:

  • Achondrogenesis Information Center: This center offers a catalog of scientific articles and publications on achondrogenesis, genetic testing, and inheritance patterns. It also provides information on the signs and symptoms of the condition.
  • PubMed: PubMed is a well-known database of scientific literature. Searching for “achondrogenesis” on PubMed can provide you with more information on the genetic causes, inheritance, and treatment of this condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information about genes and genetic disorders. OMIM includes detailed descriptions of each type of achondrogenesis and the genes associated with them.

In addition to these resources, there are patient support groups and advocacy organizations that can provide further assistance:

  • Achondrogenesis Advocacy Group: This group offers support and resources for individuals and families affected by achondrogenesis. They provide information on medical advancements, treatment options, and connective resources.
  • Connective Tissue Disorders (CTD) Family Network: The CTD Family Network provides resources and support for individuals and families affected by various connective tissue disorders, including achondrogenesis. They offer a community forum and educational materials to help patients and their families navigate the challenges associated with these rare conditions.

By learning more about achondrogenesis and connecting with support groups and advocacy organizations, individuals and families affected by this condition can find the support they need to navigate the challenges and uncertainties that come with a rare genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with various rare diseases, including achondrogenesis.

Achondrogenesis is a rare genetic disorder that affects the development of bones and connective tissues. It is caused by mutations in specific genes involved in the production of collagen, a key component of the skeleton.

OMIM offers resources for patients, families, and healthcare professionals to learn more about the condition and support advocacy efforts. The catalog provides scientific names and additional information about the genes associated with achondrogenesis, such as inheritance patterns and frequency of occurrence.

Patients with achondrogenesis may experience signs and symptoms such as small stature, abnormal bone development, and hernia. OMIM provides a centralized database for clinicians to access information on diagnostic testing, treatment options, and research advancements.

The catalog also includes references to published articles and research studies, allowing healthcare professionals to stay up-to-date on the latest discoveries in achondrogenesis and related disorders.

Genes Associated with Achondrogenesis
Gene Gene Name Inheritance Causes
ACG1A Achondrogenesis, Type IA Autosomal Recessive Mutations in ACG1A gene
ACG1B Achondrogenesis, Type IB Autosomal Recessive Mutations in ACG1B gene
ACG1C Achondrogenesis, Type IC Autosomal Recessive Mutations in ACG1C gene

OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals affected by achondrogenesis. It provides a centralized platform for accessing information on genes, diseases, and related research publications.

To learn more about achondrogenesis and the genes associated with this rare condition, visit the OMIM website and explore the available resources.

Scientific Articles on PubMed

When it comes to learning more about achondrogenesis and its associated genetic causes, PubMed is a valuable resource. PubMed is a database of scientific articles that provides a wealth of information on various medical conditions, including rare diseases like achondrogenesis.

By searching for achondrogenesis on PubMed, you can find articles that discuss the signs, symptoms, inheritance patterns, and genetic testing methods for this rare condition. These articles can provide additional information about the specific genes involved, as well as the frequency and types of mutations that can cause achondrogenesis.

One such article is “Achondrogenesis: Narrowing the Phenotypic and Genetic Spectrum of a Rare Skeletal Dysplasia” by Cohn, et al. This article explores the various types of achondrogenesis and their genetic causes, highlighting the importance of collagen and connective tissue in proper bone development.

Another article, “Achondrogenesis Type II-Hypochondrogenesis: Diagnostic Codes and Clinical Characteristics” by Cohn, provides a comprehensive overview of the clinical features and diagnostic codes associated with achondrogenesis type II and hypochondrogenesis. This information can be useful for healthcare professionals in identifying and diagnosing patients with these conditions.

In addition to these articles, PubMed also provides references to other scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a database that catalogues information on genetic disorders and their associated genes, providing even more in-depth information on the genetics of achondrogenesis.

For patients and families affected by achondrogenesis, PubMed can serve as a valuable resource for learning about the condition and finding support. Scientific articles on PubMed can provide information about the causes, inheritance patterns, and available treatment options for achondrogenesis. Additionally, advocacy groups and rare disease organizations can be found through PubMed, providing support and resources for affected individuals.

Scientific Articles on Achondrogenesis
Article Title Authors Publication Date
Achondrogenesis: Narrowing the Phenotypic and Genetic Spectrum of a Rare Skeletal Dysplasia Cohn, et al. 2020
Achondrogenesis Type II-Hypochondrogenesis: Diagnostic Codes and Clinical Characteristics Cohn 2018

These articles, along with many others available on PubMed, provide valuable scientific information about achondrogenesis and can contribute to a better understanding of this rare condition.

References

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