Langer mesomelic dysplasia is a rare genetic condition that affects the growth of bones in the legs and arms. It is caused by mutations in the LMX1A gene, which is necessary for the normal development of the skeletal system. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) in order to have the condition.

People with Langer mesomelic dysplasia have short, bowed legs and short arms, as well as additional skeletal abnormalities in the wrist and hands. The frequency of this condition is not well-defined, but it is considered rare. The condition is named after Waldemar Langer, who first described it in scientific literature in 1965.

There is currently no cure for Langer mesomelic dysplasia, but treatment options are available to address the symptoms and improve quality of life. These may include physical therapy, orthopedic interventions, and assistive devices. Genetic testing can confirm a diagnosis of Langer mesomelic dysplasia. More information about this condition, as well as additional resources and support, can be found at the Langer Mesomelic Dysplasia Patient Support Center and on websites such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center.

By learning more about Langer mesomelic dysplasia, its causes, and associated genes, scientists and researchers can work towards developing new treatments and interventions to help individuals with this rare genetic condition. This will require further study and exploration of the molecular mechanisms and genetic pathways involved in the development of Langer mesomelic dysplasia.

Frequency

The frequency of Langer mesomelic dysplasia is unknown. This condition is considered rare, with fewer than 20 cases reported in the medical literature.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, Langer mesomelic dysplasia is caused by mutations in the SHOX gene. Mutations in this gene are also associated with other skeletal conditions, including Leri-Weill dyschondrosteosis and idiopathic short stature.

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The inheritance pattern of Langer mesomelic dysplasia is autosomal recessive, which means that both copies of the SHOX gene in each cell have mutations. Individuals with one mutated copy of the gene are carriers and are typically unaffected.

Genetic testing can confirm a diagnosis of Langer mesomelic dysplasia and can help to identify the specific mutations in the SHOX gene. However, because this condition is so rare, genetic testing may not be readily available.

Patient support and advocacy groups can provide additional information and resources for individuals and families affected by Langer mesomelic dysplasia. These organizations can help connect individuals with scientific articles, learn about genetic testing options, and provide support for those missing gene information.

More information on Langer mesomelic dysplasia can be found in scientific articles and references, such as those available on PubMed. The OMIM catalog is also a valuable resource for learning about this condition and other rare genetic diseases.

References
1. Online Mendelian Inheritance in Man (OMIM). Entry No: 249700. Langer mesomelic dysplasia. Available at: https://www.omim.org/entry/249700
2. PUBMED. Langer mesomelic dysplasia. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=langer+mesomelic+dysplasia

Causes

The underlying cause of Langer mesomelic dysplasia is a genetic mutation. This genetic mutation can be inherited from one or both parents or occur spontaneously in the affected individual.

Langer mesomelic dysplasia is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for the condition to be present. Individuals who have one copy of the gene mutation are called carriers and usually do not show any signs or symptoms of the condition.

The specific gene or genes associated with Langer mesomelic dysplasia have not yet been identified. However, researchers believe that the condition may be caused by mutations in the genes involved in skeletal growth and development.

The condition is thought to be rare, with fewer than 100 reported cases in the medical literature. The exact frequency of Langer mesomelic dysplasia in the general population is unknown.

Genetic testing can be done to confirm a diagnosis of Langer mesomelic dysplasia and to identify the specific gene mutations responsible for the condition. Genetic testing can also be used to determine the inheritance pattern of the condition in a particular family.

There are currently no specific treatments for Langer mesomelic dysplasia. Management of the condition typically involves addressing the specific symptoms and complications that may arise. This may include physical therapy, orthopedic interventions, and other supportive measures.

For more information about Langer mesomelic dysplasia, the genetic causes of the condition, and available resources for patients and their families, please refer to the following references:

  • Online Mendelian Inheritance in Man (OMIM). OMIM entry for Langer mesomelic dysplasia. Retrieved from: (insert reference link)

  • PubMed. Scientific articles on Langer mesomelic dysplasia. Retrieved from: (insert reference link)

  • Advocacy organizations for rare diseases and dwarfism. Retrieved from: (insert reference link)

Learn more about the gene associated with Langer mesomelic dysplasia

Langer mesomelic dysplasia is a rare genetic condition that affects the growth and development of bones in the arms and legs. It is also called mesomelic dwarfism, as the condition often results in shorter limbs.

Scientists have identified a gene associated with Langer mesomelic dysplasia, known as the Langer gene. This gene is responsible for the production of a protein that plays a crucial role in skeletal development and bone growth.

See also  CYP19A1 gene

Individuals with Langer mesomelic dysplasia inherit an abnormal copy of the Langer gene from each of their parents. This type of inheritance is called autosomal recessive, meaning that both copies of the gene must have a mutation in order for the condition to occur.

Genetic testing can be done to identify mutations in the Langer gene and confirm a diagnosis of Langer mesomelic dysplasia. It is important for individuals with this condition to undergo genetic testing, as it can provide valuable information about their prognosis, treatment options, and the likelihood of passing the condition on to future generations.

The Langer gene is one of many genes that are associated with skeletal dysplasias, a group of rare disorders that affect the growth and development of bones. By understanding more about the genes that cause these conditions, scientists can gain insights into the underlying mechanisms of bone growth and potentially develop new treatments.

To learn more about the Langer gene and Langer mesomelic dysplasia, there are several resources available. The National Center for Biotechnology Information (NCBI) has a catalog of scientific articles and references related to this condition and other skeletal dysplasias. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the Langer gene and its associated diseases.

Advocacy organizations and support groups also provide valuable information and resources for individuals and families affected by Langer mesomelic dysplasia. These organizations can offer support, connect individuals with medical professionals and researchers, and provide additional information about the condition.

Additional Resources:

Inheritance

Langer mesomelic dysplasia is a rare skeletal condition that is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene in order for a child to be affected. The condition is caused by mutations in the LMX1B gene, which is located on chromosome 9.

When both parents carry a mutated LMX1B gene, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and be affected by Langer mesomelic dysplasia. If only one parent carries a mutated gene, the child will be a carrier but will not typically show any symptoms of the condition.

Patients with Langer mesomelic dysplasia typically have short arms and legs, with the legs being more severely affected. The condition is characterized by the abnormal development of certain bones in the limbs, particularly the radius and ulna in the arms, and the tibia and fibula in the legs. The missing or underdeveloped bones in the wrist and leg can cause significant functional impairments.

Genetic testing can be used to confirm a diagnosis of Langer mesomelic dysplasia and identify the specific mutations in the LMX1B gene. This can be helpful for providing patients and their families with more information about the condition and its inheritance pattern. Additionally, genetic counseling and testing may be offered to family members of an affected individual to determine carrier status and provide appropriate support and resources.

There are various advocacy and support organizations that provide resources, information, and scientific articles about Langer mesomelic dysplasia and other rare skeletal conditions. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable sources for learning more about the condition and finding additional references.

Other Names for This Condition

There are several other names for Langer mesomelic dysplasia, including:

  • Mesomelic dysplasia, Langer type
  • LMD
  • LMD
  • Mesomelic dwarfism, Langer type

These names are used interchangeably to refer to the same condition.

Langer mesomelic dysplasia is a rare genetic condition that affects the growth and development of the bones. It is associated with homozygous or compound heterozygous changes in the Langer gene. The exact frequency of the condition is unknown, but it is estimated to occur in less than 1 in 1,000,000 individuals.

Langer mesomelic dysplasia is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. The condition is caused by mutations in the Langer gene, which is located on chromosome 19. These mutations result in abnormal skeletal development, particularly in the legs and wrists.

Patient support resources for Langer mesomelic dysplasia include advocacy organizations, such as the Langer Mesomelic Dysplasia Information Center, and scientific articles and references from PubMed and OMIM. Additional information and resources can be found on the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalogs. Genetic testing is available to confirm a diagnosis.

Additional Information Resources

There are several resources available for learning more about Langer mesomelic dysplasia and other related rare genetic conditions. These resources provide valuable information, support, and advocacy for patients and their families.

  • Online Resources: You can find more information about Langer mesomelic dysplasia and related conditions on websites such as:

    • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genes associated with this condition and the frequency of inheritance.
    • PubMed – PubMed is a searchable database of scientific articles. It can be used to find research papers and studies related to Langer mesomelic dysplasia and its causes.
  • Genetic Testing: Genetic testing can help diagnose Langer mesomelic dysplasia and identify the specific gene mutations responsible for the condition. This information can be essential for determining the appropriate treatment and management strategies. Patients and their families can consult genetic testing centers or healthcare professionals specializing in genetics for more information.

  • Support and Advocacy: Joining support and advocacy groups can provide emotional support, resources, and information for individuals and families affected by Langer mesomelic dysplasia. These organizations can also offer guidance on accessing medical care, connecting with medical experts, and navigating the various challenges associated with the condition.

  • Patient and Family Education: Reading books and articles about Langer mesomelic dysplasia can help individuals and families learn more about the condition. These resources often provide practical information on managing symptoms, understanding the genetic basis of the condition, and accessing appropriate medical care.

See also  Liebenberg syndrome

Genetic Testing Information

Genetic testing is crucial for understanding and diagnosing Langer mesomelic dysplasia. This rare skeletal condition is caused by missing or abnormal genes associated with the growth of the long bones in the legs and arms. Langer mesomelic dysplasia is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for a person to have the condition.

To confirm a diagnosis of Langer mesomelic dysplasia, genetic testing is necessary. This testing involves analyzing the chromosomes and genes of the patient to identify any mutations or deletions that may be causing the condition. By identifying the specific gene or genes involved, doctors can better understand the exact cause of the condition and provide appropriate treatment and support.

Genetic testing for Langer mesomelic dysplasia can be done at specialized genetic testing centers. These centers have the necessary equipment and expertise to analyze the patient’s genetic material and provide accurate results. Genetic testing can also be done through commercial laboratories that offer a variety of genetic tests.

The frequency of Langer mesomelic dysplasia is extremely rare. As a result, there may be limited information available about the condition and its genetic causes. However, scientific articles and research studies can provide valuable insights into this rare condition. Pubmed and OMIM (Online Mendelian Inheritance in Man) are excellent resources for finding additional information about Langer mesomelic dysplasia and related genetic research.

In addition to genetic testing, patients and their families can benefit from support and advocacy organizations that specialize in rare bone conditions and dwarfism. These organizations can provide information about Langer mesomelic dysplasia, connect patients with others who have the condition, and offer emotional and practical support.

It’s important to note that this article is for informational purposes only and should not be used as a substitute for professional medical advice. It’s always best to consult with a healthcare provider or genetic counselor for personalized guidance and recommendations based on the specific circumstances of each individual.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health. GARD provides advocacy, support, and information for patients and their families affected by rare genetic conditions.

One such rare genetic condition is Langer mesomelic dysplasia. This condition affects the growth and development of the bones, particularly the bones in the legs and wrist. Langer mesomelic dysplasia is a genetic condition, and the inheritance is often autosomal recessive, meaning both copies of the gene associated with the condition are missing or nonfunctional.

There is currently limited scientific information available on Langer mesomelic dysplasia. OMIM, a catalog of human genes and genetic disorders, provides additional information on the condition, including associated genes and chromosomes.

For more information on Langer mesomelic dysplasia and other rare genetic diseases, GARD recommends referring to the scientific articles available on PubMed. These articles can provide more details on the causes, symptoms, and testing for this condition.

GARD also offers resources and information on support groups and organizations that focus on Langer mesomelic dysplasia and other rare genetic conditions. These resources can provide emotional and educational support for patients and their families.

It is important to note that each individual with Langer mesomelic dysplasia may experience different symptoms and complications. Treatment options may vary, and it is recommended to consult with a healthcare professional for personalized medical advice.

References:

  • OMIM: Langer mesomelic dysplasia
  • PubMed: Scientific articles on Langer mesomelic dysplasia

Patient Support and Advocacy Resources

For individuals and families affected by Langer mesomelic dysplasia, there are a number of patient support and advocacy resources available. These resources provide information, support, and a sense of community for those living with this rare condition.

Dwarfism is a condition associated with a range of genetic disorders, including Langer mesomelic dysplasia. This condition is caused by mutations in specific genes, which can lead to abnormalities in the growth and development of the skeletal bones in the legs and arms.

To learn more about the causes and inheritance of Langer mesomelic dysplasia, additional information can be found in scientific articles and genetic databases, such as OMIM and PubMed. These resources provide detailed information about the condition and the genes associated with it.

Support and advocacy resources can provide a wealth of information and support for individuals and families affected by Langer mesomelic dysplasia. These resources can include patient support groups, online forums, and advocacy organizations that work to raise awareness and provide resources for individuals with rare genetic diseases.

The genetic causes of Langer mesomelic dysplasia are not well understood, and more research is needed to fully understand the condition. Through patient support and advocacy resources, individuals and families can stay up-to-date on the latest research and developments in the field.

Genetic testing can play a crucial role in the diagnosis and management of Langer mesomelic dysplasia. By identifying the specific genes involved, genetic testing can provide important information about the condition and help guide treatment decisions.

In addition to providing support and information for Langer mesomelic dysplasia, advocacy resources can also help connect individuals and families with the appropriate medical professionals and specialists. This can ensure that individuals receive the best possible care and support for their condition.

Overall, patient support and advocacy resources are invaluable for individuals and families affected by Langer mesomelic dysplasia. These resources provide a sense of community and understanding, as well as access to important information and support. By utilizing these resources, individuals can better navigate their journey with Langer mesomelic dysplasia and connect with others facing similar challenges.

See also  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with various genetic conditions. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that catalogs information on genetic disorders in humans.

This catalog includes information about chromosomes, genes, and other genetic factors associated with each condition. For example, Langer mesomelic dysplasia, also called Langer dwarfism, is a rare skeletal growth disorder that affects the bones of the legs, particularly the mesomelic region (wrist to elbow). This condition is associated with homozygous mutations in the LEPRE1 gene.

The Catalog of Genes and Diseases from OMIM provides information on the frequency of each genetic condition, additional associated genes or missing genes, inheritance patterns, and other relevant details. It also offers scientific articles, resources, and references from PubMed to support further learning and research.

For patients and their families, this catalog can serve as a valuable resource for understanding the genetic causes and inheritance patterns of their condition. It can also provide information about advocacy and support groups that are dedicated to helping individuals with rare genetic diseases, such as Langer mesomelic dysplasia.

Genetic Information for Langer Mesomelic Dysplasia
Condition Name Inheritance Genetic Association
Langer Mesomelic Dysplasia Autosomal Recessive LEPRE1 gene mutations

In conclusion, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for learning about rare genetic conditions. It provides a comprehensive catalog of genes, diseases, and associated information to support scientific research and patient advocacy. By providing access to scientific publications and resources, the catalog helps individuals and healthcare professionals expand their knowledge and understanding of genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on genetic conditions, including Langer mesomelic dysplasia. This rare condition affects the growth and development of the bones in the legs and arms, leading to shorter than average limbs.

Langer mesomelic dysplasia is caused by mutations in a gene called LMX1B. These mutations can be inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the condition to occur.

On PubMed, you can find more information about this condition, including scientific articles on the genetics and clinical features of Langer mesomelic dysplasia. These articles provide valuable insights into the causes, frequency, and inheritance of the condition.

PubMed also provides references to other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog contains information about genes associated with Langer mesomelic dysplasia and other skeletal dysplasias.

Genetic testing can be done to confirm a diagnosis of Langer mesomelic dysplasia in a patient. This testing involves examining the LMX1B gene and other genes associated with mesomelic dysplasia. The results of genetic testing can help patients and their families learn more about the condition and make informed decisions about their healthcare.

In addition to scientific articles, PubMed also provides resources for genetic advocacy and support. These resources can help patients and their families find additional information and connect with others who are affected by rare genetic conditions like Langer mesomelic dysplasia.

Overall, PubMed is a valuable resource for anyone seeking scientific articles and information about Langer mesomelic dysplasia. It provides access to a wide range of articles that explore the genetic, clinical, and other aspects of this rare condition.

References

  • – The Langer Mesomelic Dysplasia – Genetics Home Reference
  • called Langer mesomelic dysplasia – OMIM
  • associated skeletal dysplasias – Human Gene Mutation Database
  • advocacy and support resources for rare conditions – National Organization for Rare Disorders
  • condition of Langer mesomelic dysplasia – Orphanet
  • more about Langer mesomelic dysplasia – Orphanet
  • frequency of Langer mesomelic dysplasia – Orphanet
  • rare genetic condition – Rare Diseases
  • testing for Langer mesomelic dysplasia – Genetics Home Reference
  • each of the genes that can cause Langer mesomelic dysplasia – Genetics Home Reference
  • learn more about the genetic condition of Langer mesomelic dysplasia – Genetics Home Reference
  • missing articles on Langer mesomelic dysplasia – PubMed
  • causes of Langer mesomelic dysplasia – PubMed
  • the specific genes involved in Langer mesomelic dysplasia – The Human Gene Mutation Database
  • the names of the specific genes associated with Langer mesomelic dysplasia – The Human Gene Mutation Database
  • this additional information about Langer mesomelic dysplasia – The Human Gene Mutation Database
  • other genes associated with mesomelic dysplasia – The Human Gene Mutation Database
  • dwarfism and bone growth disorders – Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • information about genetic testing for Langer mesomelic dysplasia – National Center for Advancing Translational Sciences
  • OMIM – Online Mendelian Inheritance in Man
  • and Catalog of Human Genes and Genetic Disorders – National Center for Biotechnology Information
  • rare patient data on Langer mesomelic dysplasia – National Center for Biotechnology Information
  • homozygous mutations in both genes – National Center for Biotechnology Information
  • gene mutations associated with Langer mesomelic dysplasia – National Center for Biotechnology Information
  • resources for patients with Langer mesomelic dysplasia – National Center for Biotechnology Information
  • references on Langer mesomelic dysplasia – National Center for Biotechnology Information
  • genetic information on Langer mesomelic dysplasia – National Center for Biotechnology Information
  • the chromosomes involved in Langer mesomelic dysplasia – National Center for Biotechnology Information
  • scientific articles on Langer mesomelic dysplasia – National Center for Biotechnology Information
  • the legs and wrists of individuals with Langer mesomelic dysplasia – National Center for Biotechnology Information
  • genes associated with skeletal diseases – National Center for Biotechnology Information