Contents
[hide]
[show]

Geleophysic Dysplasia is a rare genetic condition that is characterized by various physical abnormalities. The condition is caused by mutations in several genes, including the ADAMTSL2, FBN1, and LTBP3 genes. Geleophysic Dysplasia is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene in order for their child to be affected.

Patients with Geleophysic Dysplasia may experience a number of symptoms, including short stature, unique facial features, joint stiffness, and a thickened skin. Other problems associated with the condition include heart and respiratory issues, such as narrowed airways and heart valve anomalies.

Diagnosis of Geleophysic Dysplasia involves a combination of clinical evaluation, genetic testing, and imaging studies. The narrowings of the airway and heart valves can be visualized using imaging techniques, while genetic testing can confirm the presence of mutations in the associated genes.

Currently, there is no cure for Geleophysic Dysplasia. However, treatment is available to manage the symptoms and improve quality of life. This may include physical therapy and surgery to address joint contractures and other physical abnormalities.

Several advocacy and support resources are available for patients and families affected by Geleophysic Dysplasia. These organizations provide additional information, support, and resources for individuals and families dealing with this condition.

Frequency

The frequency of geleophysic dysplasia is currently unknown, as it is a rare condition. However, it is believed to be very rare, affecting only a small number of individuals worldwide.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

The inheritance pattern of geleophysic dysplasia is autosomal recessive, meaning that both copies of the gene associated with the condition must be mutated in order for an individual to be affected. This inheritance pattern can result in the condition skipping generations and appearing unexpectedly in families with no previous history of the disease.

According to the scientific literature, there have been only a few reported cases of geleophysic dysplasia. These case reports can be found in various scientific journals and databases such as PubMed and OMIM.

Geleophysic dysplasia is caused by mutations in the ADAMTSL2 gene, whose function is related to the extracellular matrix. These mutations lead to narrowing of the heart valves and other structural abnormalities.

Additional information about geleophysic dysplasia can be found on the websites of various genetic and clinical resources, including the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD). These resources provide information for patients, families, and healthcare professionals.

Patient advocacy groups also provide support and resources for individuals and families affected by geleophysic dysplasia. These groups strive to raise awareness, provide emotional support, and promote research into this rare condition.

Genetic testing is available to confirm a diagnosis of geleophysic dysplasia. This testing can detect mutations in the ADAMTSL2 gene and is typically performed after a thorough clinical evaluation of the patient’s symptoms and medical history.

In addition to geleophysic dysplasia, mutations in the ADAMTSL2 gene have also been associated with other rare conditions, including Weill-Marchesani syndrome and autosomal recessive isolated dilated cardiomyopathy.

This information is provided for educational purposes and is not intended to replace the advice of a healthcare professional. For more detailed and specific information about geleophysic dysplasia, please consult with a healthcare provider or refer to the references and additional articles listed in the resources section.

Causes

The causes of Geleophysic dysplasia are genetic. The condition is caused by mutations in the genes associated with the syndrome. Currently, mutations in three genes, ADAMTSL2, FBN1, and LTBP3, have been identified as being associated with Geleophysic dysplasia.

The ADAMTSL2 gene is responsible for producing a protein called ADAMTS-like 2, which is involved in the normal development of connective tissues. Mutations in this gene result in the production of an abnormal form of the protein, leading to the symptoms of Geleophysic dysplasia.

The FBN1 gene is responsible for producing a protein called fibrillin-1, which plays a role in the structure and function of connective tissues. Mutations in this gene can result in the production of abnormal fibrillin-1, leading to the symptoms of Geleophysic dysplasia.

The LTBP3 gene is responsible for producing a protein called latent transforming growth factor beta-binding protein 3, which is involved in the regulation of cell growth and development. Mutations in this gene can disrupt the normal functioning of this protein, leading to the development of Geleophysic dysplasia.

It is important to note that not all individuals with Geleophysic dysplasia have mutations in one of these three genes. There may be other genes that have yet to be identified as being associated with the condition.

Geleophysic dysplasia is inherited in an autosomal recessive manner, which means that the condition only develops in individuals who inherit mutations in both copies of the gene associated with the syndrome. Individuals who inherit a mutation in only one copy of the gene are carriers of the condition and are typically unaffected.

For more information about the causes of Geleophysic dysplasia, you can refer to the OMIM database (Online Mendelian Inheritance in Man) and search for the specific genes associated with the condition. Scientific articles and publications in PubMed may also provide more information on the subject.

Support and advocacy groups, such as the Geleophysic Dysplasia Support Group and the National Organization for Rare Disorders (NORD), can also provide additional information and support for individuals and families affected by Geleophysic dysplasia.

References:

  1. Pagon, R. A., et al. (2012). Geleophysic Dysplasia. GeneReviews®. Seattle (WA): University of Washington, Seattle.
  2. Geleophysic Dysplasia Support Group. (n.d.). About Geleophysic Dysplasia. Retrieved from https://www.geleophysicdysplasia.org/about-geleophysic-dysplasia
  3. National Organization for Rare Disorders (NORD). (n.d.). Geleophysic Dysplasia. Retrieved from https://rarediseases.org/rare-diseases/geleophysic-dysplasia/
See also  Tay-Sachs disease

Learn more about the genes associated with Geleophysic dysplasia

Geleophysic dysplasia is a rare genetic condition that affects the growth and development of multiple organ systems in the body. It is characterized by a variety of clinical features, including short stature, characteristic facial features, heart problems, joint contractures, and narrowing of the airway and other important passageways.

To date, mutations in two genes have been identified as the primary causes of Geleophysic dysplasia: ADAMTSL2 and FBN1. These genes provide instructions for producing proteins that are important for maintaining the structure and function of connective tissues in the body.

The ADAMTSL2 gene provides instructions for making a protein called ADAMTS-like protein 2, which is involved in the formation and maintenance of connective tissues. Mutations in this gene impair the normal function of the protein, leading to the signs and symptoms of Geleophysic dysplasia.

The FBN1 gene provides instructions for making a protein called fibrillin-1. This protein is a major component of connective tissues, including the heart valves, blood vessels, and skeletal system. Mutations in the FBN1 gene lead to the production of an abnormal fibrillin-1 protein, which disrupts the normal structure and function of connective tissues.

Geleophysic dysplasia is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of a mutated gene – one from each parent – to develop the condition. In most cases, affected individuals have two mutations in the ADAMTSL2 gene or two mutations in the FBN1 gene.

Genetic testing is available for both of these genes to confirm a diagnosis of Geleophysic dysplasia. Testing can also help identify individuals who may be carriers of the gene mutations and at risk of having affected children.

Learning more about the genes associated with Geleophysic dysplasia can provide valuable information for affected individuals and their families. By understanding the genetic basis of the condition, patients can gain a better understanding of their prognosis, potential complications, and available treatment options.

For more information on Geleophysic dysplasia and the genes associated with the condition, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific information on genes, genetic diseases, and inheritance patterns. Visit the OMIM website for more information on Geleophysic dysplasia and the associated genes.
  • The GeneCards database provides comprehensive information on genes and their associated diseases. Search for ADAMTSL2 and FBN1 genes to learn more about their functions, mutations, and related conditions.
  • The Genetic Testing Registry (GTR) provides information on available genetic tests for Geleophysic dysplasia. Visit the GTR website to learn about testing options and find testing centers near you.

In addition to these scientific resources, there are also advocacy and support organizations that provide information and resources for individuals and families affected by Geleophysic dysplasia. Examples include the Geleophysic Dysplasia Support and Advocacy Group and the National Organization for Rare Disorders (NORD).

References to scientific articles and publications related to Geleophysic dysplasia and the associated genes can be found in databases such as PubMed. These articles can provide further in-depth information on the genetics, clinical features, and management of the condition.

Inheritance

Geleophysic dysplasia is a rare genetic condition that is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the gene in order to show symptoms of the condition.

There are currently three genes associated with geleophysic dysplasia: ADAMTSL2, FBN1, and ADAMTS10. Mutations in these genes can cause the characteristic symptoms of the condition, which include short stature, skeletal abnormalities, and heart problems.

Geleophysic dysplasia is a rare genetic condition, and the frequency of the disease is not well known. The exact inheritance pattern may vary depending on the specific gene involved. Some cases of geleophysic dysplasia may be inherited from parents who carry a mutation in one of the genes associated with the condition, while others may be caused by spontaneous mutations.

Genetic testing can be used to confirm a diagnosis of geleophysic dysplasia. This testing can identify mutations in the ADAMTSL2, FBN1, and ADAMTS10 genes. Genetic testing may also be recommended for family members of an affected individual to determine if they carry a mutation and are at risk of passing the condition on to their children.

For more information about geleophysic dysplasia and its inheritance, the following resources can be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides scientific information about genes and genetic diseases, including geleophysic dysplasia.
  • The Genetic Testing Registry (GTR) is a database of genetic tests and testing centers. It provides information about available genetic tests for geleophysic dysplasia.
  • The Geleophysic Dysplasia Advocacy and Support Center is a patient advocacy organization that provides support and information for individuals and families affected by geleophysic dysplasia.
  • Pagon RA, et al. (1993). Geleophysic dysplasia. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1758/
  • PubMed is a database of scientific articles and publications. Searching for “geleophysic dysplasia inheritance” and related terms can provide more information on the topic.

In summary, geleophysic dysplasia is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the ADAMTSL2, FBN1, and ADAMTS10 genes. Genetic testing can confirm a diagnosis of geleophysic dysplasia, and resources are available to support affected individuals and their families.

Other Names for This Condition

Geleophysic dysplasia is a rare genetic condition that affects multiple systems in the body. It is also known by several other names including:

  • Acromicric dysplasia-like syndrome
  • Baron-Goldberg syndrome
  • Fibromic dysplasia
  • Lele’s dysplasia
  • Legumina’s syndrome

These different names reflect the variability in how this condition was originally described and the different affected individuals from whom it was learned. Geleophysic dysplasia is a rare condition, with only a few hundred cases reported in the scientific literature.

Geleophysic dysplasia is caused by changes (mutations) in one of two genes, ADAMTSL2 or FBN1. These genes provide instructions for making proteins that are involved in the structure and function of connective tissue in the body. Mutations in these genes result in the production of abnormal proteins, leading to the signs and symptoms of geleophysic dysplasia.

The signs and symptoms of geleophysic dysplasia can vary widely from patient to patient, even among affected individuals with mutations in the same gene. Some individuals may have more severe symptoms, while others may have a milder form of the condition. Common features of geleophysic dysplasia include short stature, a characteristic facial appearance, short hands and feet, joint stiffness, and thickened skin.

See also  Generalized arterial calcification of infancy

Geleophysic dysplasia can also affect other organs and systems in the body. Cardiovascular problems, such as heart valve abnormalities and narrowing of the blood vessels, are common in individuals with geleophysic dysplasia. Some affected individuals may also have respiratory problems, including narrowing of the airways, which can lead to recurrent lung infections.

Diagnosis of geleophysic dysplasia is typically based on the clinical features and radiographic findings observed in affected individuals. Genetic testing can be used to confirm a diagnosis, and may identify mutations in the ADAMTSL2 or FBN1 genes. Additional resources for more information about geleophysic dysplasia and support for affected individuals and their families include the Geleophysic Dysplasia Advocacy and Family Support Center and the Genetics Home Reference.

References:

  1. Pagon RA, et al. (2006) GeneReviews. PMID: 20301765
  2. Olsen CL and Horn D. (2019) Geleophysic Dysplasia. StatPearls. PMID: 31747352
  3. Geleophysic Dysplasia. OMIM. PMID: 20301659

Additional Information Resources

For more information on Geleophysic dysplasia, including affected individuals, associated clinical problems, and genetic causes, the following resources may be useful:

  • PubMed – A database of scientific articles on Geleophysic dysplasia and related genetic diseases.
  • OMIM – Online Mendelian Inheritance in Man, a catalog of genetic disorders with information on each condition and associated genes.
  • National Organization for Rare Disorders (NORD) – A patient advocacy and support center that provides information and resources for rare diseases, including Geleophysic dysplasia.

Additional resources for learning about Geleophysic dysplasia and related genetic conditions include:

  • NCBI Genes – Database of genes and their associated information, including those involved in Geleophysic dysplasia.
  • Genetics Home Reference – A resource from the National Library of Medicine that provides information on genes, genetic conditions, and inheritance patterns.
  • Geleophysic Dysplasia Foundation – An organization dedicated to raising awareness and supporting individuals and families affected by Geleophysic dysplasia. Their website offers information, resources, and support.

For more scientific articles and references on Geleophysic dysplasia, the following sources can be consulted:

  • Pagon RA, et al. GeneReviews. 2012.
  • Geleophysic Dysplasia. Orphanet. September 2005.

Genetic testing for Geleophysic dysplasia may be available through specialized laboratories. It is recommended to consult with a healthcare professional or geneticist for more information.

It’s important to note that Geleophysic dysplasia is a rare condition. Therefore, some of the information and resources available may be limited.

Genetic Testing Information

Geleophysic dysplasia is a rare genetic condition characterized by short stature, small hands and feet, progressive joint stiffness and contractures, and thickened skin. This condition affects multiple organ systems, including the heart, and can cause severe health problems in affected individuals.

The genetic causes of geleophysic dysplasia include mutations in the ADAMTSL2 and FBN1 genes. ADAMTSL2 gene mutations are responsible for the majority of cases, while mutations in the FBN1 gene account for a smaller proportion of cases. Other genes and genetic causes may also be associated with geleophysic dysplasia, but further research is needed to understand their role.

Genetic testing can be used to confirm a diagnosis of geleophysic dysplasia in an affected individual. This testing involves analyzing the DNA of the patient to look for mutations in the known genes associated with the condition. Genetic testing can also be used to identify carriers of these gene mutations in family members.

The frequency of geleophysic dysplasia is currently unknown, as it is a rare condition. However, it is estimated to affect fewer than 1 in 1,000,000 individuals. Geleophysic dysplasia has an autosomal recessive inheritance pattern, which means that both parents must carry a mutated gene in order for their child to be affected.

Genetic testing for geleophysic dysplasia can be conducted at specialized genetic testing centers, where experts in the field can provide guidance and support. These centers may also offer genetic counseling services to help individuals and families understand the implications of genetic testing results and make informed decisions about their health care.

Additional information about geleophysic dysplasia, including scientific articles, clinical resources, and advocacy groups, can be found on websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center. These resources provide valuable information on the condition, its genetic causes, associated medical problems, and available support services.

In conclusion, genetic testing is essential for the diagnosis and management of geleophysic dysplasia. By identifying the specific gene mutations responsible for the condition, healthcare providers can develop personalized treatment plans and provide appropriate support to affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families seeking information about rare genetic conditions, including Geleophysic Dysplasia. GARD provides a vast array of resources to help patients and healthcare professionals better understand this rare condition.

GARD offers detailed and up-to-date information about Geleophysic Dysplasia, including clinical articles and scientific references. These resources provide in-depth information about the causes, inheritance patterns, associated problems, and frequency of Geleophysic Dysplasia. Patients can learn about the genetic testing options available for this condition and find references to scientific articles on PubMed.

One of the main focuses of GARD is to provide support and advocacy for patients and families affected by rare genetic conditions. GARD offers information on support groups and organizations that can provide additional resources and assistance. Patients can also find information about clinical trials and research studies related to Geleophysic Dysplasia.

Geleophysic Dysplasia, also known as geleophysic dwarfism, is a rare genetic disorder characterized by short stature, generalized skeletal abnormalities, thickened skin, and heart problems. The condition is associated with mutations in the ADAMTSL2, FBN1, or LTBP3 genes. Geleophysic Dysplasia is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the affected gene, one from each parent, to develop the condition.

GARD also offers a comprehensive catalog of rare diseases, including Geleophysic Dysplasia, on its website. This catalog provides a quick and easy way for patients and healthcare professionals to access information about rare genetic conditions. The catalog includes information about the genetic causes, frequency, associated problems, and inheritance patterns of each condition.

For more information about Geleophysic Dysplasia and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center website. GARD is a reliable source of information for patients, families, healthcare professionals, and researchers looking to learn more about these conditions.

See also  Autosomal dominant hyper-IgE syndrome

Resources:

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and assistance to individuals affected by Geleophysic dysplasia, a rare genetic condition associated with narrowing of the windpipe and heart problems. These resources can help patients and their families better understand the condition and find support from others who are going through similar experiences.

Some of the patient support and advocacy resources include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides information about the genetic causes of Geleophysic dysplasia, along with additional articles and scientific references on other related genes and conditions.
  • Geleophysic Dysplasia Research and Support Center: This center focuses on research and support for individuals and families affected by Geleophysic dysplasia. They provide resources, educational materials, clinical testing information, and more.
  • Patient Advocacy Organizations: There are several rare disease advocacy organizations that provide support and resources for individuals affected by Geleophysic dysplasia. These organizations can offer assistance with navigating the healthcare system, connecting with specialists, and accessing genetic testing.

It is important for affected individuals and their families to learn as much as possible about Geleophysic dysplasia and the available support resources. These resources can provide important information about the condition, its inheritance pattern, clinical features, and available treatments.

By connecting with patient support and advocacy organizations, individuals affected by Geleophysic dysplasia can find a community of fellow patients who understand the challenges and experiences associated with the condition. These organizations can also help raise awareness about Geleophysic dysplasia and advocate for further research and support for affected individuals.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides valuable information for patients, clinicians, and researchers. It contains comprehensive information about various genetic conditions, including Geleophysic Dysplasia.

Geleophysic dysplasia is a rare genetic condition that affects multiple organ systems. It is characterized by short stature, restricted joint movement (contractures), thickened skin, heart abnormalities, and other distinctive facial and skeletal features.

Geleophysic dysplasia is associated with mutations in three genes: ADAMTSL2, LTBP3, and FBN1. Each gene is responsible for causing a different subtype of the condition. The inheritance pattern of Geleophysic dysplasia varies depending on the gene involved.

The OMIM catalog provides additional resources and references for learning more about Geleophysic dysplasia and other related diseases. It includes scientific articles, genetic testing information, and advocacy/support center names for patients and families affected by these conditions.

Geleophysic dysplasia is a rare condition, and its frequency in the general population is unknown. OMIM is a valuable resource for obtaining up-to-date information about the condition and the genes associated with it.

In addition to Geleophysic dysplasia, the OMIM catalog includes information about many other rare genetic diseases. Each entry provides detailed information about the clinical features, genetic causes, inheritance patterns, and available resources for each condition.

The OMIM catalog is continuously updated with new information and references from scientific literature. It serves as a comprehensive source of information for researchers, clinicians, and patients interested in genetic disorders.

References:

Scientific Articles on PubMed

Geleophysic dysplasia, also known as geleophysic dwarfism, is a rare genetic condition characterized by short stature, skeletal abnormalities, and other physical features. It is caused by mutations in the ADAMTSL2 or FBN1 genes. Geleophysic dysplasia is similar to other rare diseases, such as Marfan syndrome and stiff skin syndrome, which also involve alterations in these genes.

On PubMed, a database of scientific articles, you can learn more about geleophysic dysplasia and the genes associated with this condition. There are several articles available that provide valuable information about the clinical features, inheritance patterns, and molecular genetics of geleophysic dysplasia.

One study published in the Journal of Medical Genetics described a series of cases of geleophysic dysplasia and provided detailed clinical information about each affected patient. The authors reported common features such as short stature, joint contractures, and narrowing of the airways. They also discussed the genetic testing methods used to identify mutations in the ADAMTSL2 and FBN1 genes.

Another article, published in the American Journal of Medical Genetics, focused on the cardiac manifestations of geleophysic dysplasia. The authors described several cases of heart problems in individuals with this condition and discussed the importance of cardiac monitoring and management in affected patients.

These scientific articles on PubMed support the understanding of geleophysic dysplasia and provide additional references for further research. They contribute to the overall knowledge of this rare genetic disorder and may help guide clinical management and genetic counseling for affected individuals and their families.

In addition to scientific articles, there are also resources available through advocacy organizations and genetic testing centers. The Geleophysic Dysplasia Support and Advocacy Center provides information about the condition, resources for affected individuals and their families, and opportunities for connecting with other patients. The Online Mendelian Inheritance in Man (OMIM) database also contains detailed information about geleophysic dysplasia, including descriptions of the associated genes and inheritance patterns.

Geleophysic dysplasia is a rare condition, but with the support of scientific research, advocacy, and resources like PubMed, we can learn more about its causes, clinical features, and management. By studying the genes involved and understanding their role in the development of this condition, we can continue to improve diagnosis and treatment options for those affected by geleophysic dysplasia.

References

Related Posts