Thanatophoric dysplasia

Thanatophoric dysplasia is a rare genetic condition characterized by severe skeletal abnormalities and a significant reduction in fetal growth. It is one of several types of skeletal dysplasias, which are a group of disorders that affect bone growth and development. Thanatophoric dysplasia is named after the Greek words “thanatos” meaning death and “phoros” meaning carrying, reflecting the poor prognosis associated with this condition.

The condition is caused by mutations in the FGFR3 gene, which provides instructions for making a protein called fibroblast growth factor receptor 3. This protein plays a critical role in the development and growth of bone and other tissues. Mutations in the FGFR3 gene disrupt normal bone growth, leading to the characteristic features of thanatophoric dysplasia.

Thanatophoric dysplasia is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. In most cases, the condition is not inherited but occurs as a result of a new mutation in the FGFR3 gene.

Diagnosis of thanatophoric dysplasia can be made by clinical evaluation and confirmed with genetic testing. Genetic testing can identify mutations in the FGFR3 gene, helping to confirm the diagnosis and providing information about recurrence risk for other pregnancies. Prenatal testing, such as ultrasound or amniocentesis, can also be used to diagnose the condition in utero.

Currently, there is no cure for thanatophoric dysplasia, and treatment is supportive and aimed at managing symptoms. This may include surgical interventions to address respiratory or feeding difficulties, as well as physical and occupational therapy to maximize the child’s quality of life.

Research studies and clinical trials are ongoing to better understand the condition and develop potential treatments. Additional information and resources about thanatophoric dysplasia can be found through organizations such as OMIM (Online Mendelian Inheritance in Man), the Genetic and Rare Diseases Information Center, and support groups like the Thanatophoric Dysplasia Advocacy and Support Resources. Scientific articles and references about thanatophoric dysplasia can also be accessed through resources like PubMed and the Human Gene Mutation Database.

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Frequency

Thanatophoric dysplasia is a rare genetic disorder with an estimated frequency of 1 in 20,000 to 50,000 live births. It is one of the most common lethal skeletal dysplasias identified in infants.

The disorder has two known types, Thanatophoric dysplasia type I (TD1) and Thanatophoric dysplasia type II (TD2). TD1 is more common than TD2, accounting for about 70-80% of cases, while TD2 is rarer, accounting for about 20-30% of cases.

The frequency of Thanatophoric dysplasia is higher in populations with a high prevalence of consanguineous marriages, suggesting a possible genetic cause. It has been associated with mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.

Testing for mutations in the FGFR3 gene can be used for diagnosis and confirmation of the condition. Genetic testing is recommended for individuals with suspected Thanatophoric dysplasia based on clinical features and radiographic findings.

There are limited resources and support available for individuals and families affected by Thanatophoric dysplasia. However, there are several advocacy organizations and support groups that provide information, resources, and support to patients and their families.

Research studies and scientific articles about Thanatophoric dysplasia can be found in databases such as OMIM and PubMed. These resources provide comprehensive information on the genetic basis, clinical presentation, inheritance patterns, and management of the condition.

In addition to Thanatophoric dysplasia, there are other rare diseases and disorders associated with the FGFR3 gene. It is important for individuals with these conditions and their families to learn about the causes, inheritance patterns, and available resources for support.

The Center for Rare Diseases and Genetic Disorders is a valuable resource for additional information on Thanatophoric dysplasia and other rare genetic conditions. It provides up-to-date information, research references, and patient support resources.

1. OMIM – Thanatophoric dysplasia
2. PubMed – Studies about Thanatophoric dysplasia
3. Genet. Rare Diseases Gene, with the gene name FGFR3

References

Causes

Thanatophoric dysplasia is associated with a genetic disorder that affects bone and skeletal development. Research has shown that the condition is caused by mutations in the FGFR3 gene.

The FGFR3 gene provides instructions for making a protein that plays a role in the development and maintenance of bones and other tissues in the body. Mutations in this gene lead to the production of a faulty protein that interferes with bone growth and development, resulting in the characteristic features of thanatophoric dysplasia.

Studies have shown that thanatophoric dysplasia is typically inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. In some cases, the condition may arise as a result of a new mutation in the gene and not be inherited from either parent.

The exact frequency of thanatophoric dysplasia is unknown, but it is considered a rare condition. It is estimated to occur in approximately 1 in every 20,000 to 50,000 births.

For more scientific information about the genetic causes of thanatophoric dysplasia, researchers and healthcare professionals can refer to resources such as PubMed, OMIM, and Genet Genealogical Catalog of Genes and Genetic Disorders.

Patient advocacy organizations and rare disease research centers may also provide additional information and resources about the causes of thanatophoric dysplasia, as well as other genetic disorders and rare diseases.

It is important for individuals and families affected by thanatophoric dysplasia to consult with healthcare professionals and genetic counselors for accurate diagnosis, genetic testing, and information about the condition’s inheritance pattern and available treatment options.

Learn more about the gene associated with Thanatophoric dysplasia

Thanatophoric dysplasia is a rare genetic condition that causes severe skeletal and growth abnormalities in affected individuals. It is characterized by extremely short limbs, narrow chest, and a small rib cage, leading to respiratory problems and often causing death shortly after birth.

Research studies have identified specific genetic mutations that are associated with Thanatophoric dysplasia. The most common mutations occur in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. Mutations in this gene can disrupt normal bone growth and lead to the characteristic features of Thanatophoric dysplasia.

The FGFR3 gene is located on chromosome 4 and follows an autosomal dominant pattern of inheritance. This means that a single copy of the mutated gene from either parent is sufficient to cause the condition. However, most cases of Thanatophoric dysplasia occur sporadically, meaning they are not inherited from the parents but occur as a result of a new mutation that happens during the formation of reproductive cells or early in development.

Learning more about the gene associated with Thanatophoric dysplasia can provide valuable information for understanding the underlying causes of this condition. It can also help in the development of potential treatments or interventions for affected individuals.

There are several resources available for individuals interested in learning more about Thanatophoric dysplasia and the associated gene:

• The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the FGFR3 gene and its association with Thanatophoric dysplasia.
• The Genetic and Rare Diseases Information Center (GARD) offers a wide range of resources and articles on rare genetic diseases. They provide information on the symptoms, causes, and inheritance patterns of Thanatophoric dysplasia.
• The Fibroblast Growth Factor Receptor 3 (FGFR3) Testing Center offers genetic testing services to identify mutations in the FGFR3 gene. This can help confirm a diagnosis of Thanatophoric dysplasia.
• The ClinicalTrials.gov website provides information on ongoing clinical trials and research studies related to Thanatophoric dysplasia. Participating in these trials can contribute to advancing scientific knowledge and improving treatment options for this condition.

By utilizing these resources, individuals can learn more about the gene associated with Thanatophoric dysplasia and stay informed about the latest research and advancements in the field.

Inheritance

Thanatophoric dysplasia is a genetic condition that is inherited in an autosomal dominant manner.

ClinicalTrials.gov shows that there are currently no clinical trials associated with thanatophoric dysplasia. However, genetic testing for the FGFR3 gene can confirm a diagnosis of thanatophoric dysplasia.

Patient support and advocacy organizations, such as the Thanatophoric Dysplasia Registry and Resource Group, can provide additional information and resources for patients and families affected by this condition.

Studies published in scientific journals and articles available on PubMed may provide more information about the genetics and inheritance of thanatophoric dysplasia. Other references, such as the Online Mendelian Inheritance in Man (OMIM) catalog of human genes and genetic disorders, can also be helpful for learning about this rare genetic condition.

The inheritance of thanatophoric dysplasia is associated with mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and cartilage. Mutations in the FGFR3 gene result in abnormal bone development and lead to the characteristic features of thanatophoric dysplasia.

Dysplasias are a group of rare genetic disorders that affect bone and cartilage growth. Thanatophoric dysplasia is the most severe and lethal type of dwarfism within this group of conditions.

Genetic counseling and testing can help families understand the risk of inheriting thanatophoric dysplasia or other rare genetic conditions. Testing can also provide important information for family planning and prenatal diagnosis.

Frequency of Thanatophoric Dysplasia

Type	OMIM Name	Gene	Additional Information
Type I	Thanatophoric dysplasia, type I	FGFR3	This is the most common type of thanatophoric dysplasia, accounting for approximately 75% of cases. It is characterized by severe skeletal abnormalities at birth and a high risk of stillbirth or early death.
Type II	Thanatophoric dysplasia, type II	FGFR3	This is the less common type of thanatophoric dysplasia, accounting for approximately 25% of cases. It is also characterized by severe skeletal abnormalities, but affected individuals may survive longer than those with type I.

Fibroblast growth factor receptor 3 (FGFR3) gene testing is the most common genetic test used to diagnose thanatophoric dysplasia and other related skeletal dysplasias.

It is important for patients and families affected by thanatophoric dysplasia to work closely with their healthcare team, including genetic specialists, to manage the condition and obtain appropriate support and resources.

Other Names for This Condition

Thanatophoric dysplasia is a rare genetic disorder that affects skeletal development. It is also known by several other names, including:

1. Thanatophoric dwarfism
2. Thanatophoric skeletal dysplasia
3. Thanatophoric dysplasia syndrome
4. TD

These alternative names are often used interchangeably to describe the same condition.

It is important to note that thanatophoric dysplasia is just one type of skeletal dysplasia out of many different types that have similar features. These rare conditions are characterized by abnormal growth and development of bones and cartilage.

Researchers have identified two different genes that are associated with thanatophoric dysplasia and other related skeletal dysplasias. These genes are known as FGFR3 and the TRPV4 gene. Studies suggest that mutations in these genes are the primary cause of thanatophoric dysplasia.

Additional research is still ongoing to learn more about the inheritance patterns, clinical features, and causes of thanatophoric dysplasia and other skeletal dysplasias. Patient advocacy groups and rare diseases organizations provide support, information, and resources for individuals and families affected by these conditions.

There are also scientific articles, studies, and references available on the OMIM website and PubMed catalog for further information and research on thanatophoric dysplasia. Genetic testing is available to confirm a diagnosis and provide more information about the specific gene mutations associated with the condition.

ClinicalTrials.gov is another valuable resource for finding ongoing research studies and clinical trials related to thanatophoric dysplasia and other skeletal dysplasias.

It is important for individuals and families affected by these conditions to seek support and information from reputable sources to better understand their condition and access the resources and support available to them.

Additional Information Resources

For more information about Thanatophoric Dysplasia, you can refer to the following resources:

• Frequency: Thanatophoric Dysplasia is a rare genetic condition.
• Associated genes and inheritance: Studies have identified mutations in the FGFR3 gene that cause Thanatophoric Dysplasia. The condition is inherited in an autosomal dominant pattern.
• Clinical features and causes: Thanatophoric Dysplasia is characterized by severe skeletal abnormalities and is caused by mutations in the FGFR3 gene.
• Other related dysplasias: There are other rare skeletal dysplasias with similar features to Thanatophoric Dysplasia, such as Achondroplasia and Hypochondroplasia.
• References: You can find more information about Thanatophoric Dysplasia in published articles on PubMed and OMIM.
• Patient support and advocacy: There are advocacy organizations and support groups that provide resources and support for individuals and families affected by Thanatophoric Dysplasia.
• Genetic testing: Genetic testing can be done to confirm the diagnosis of Thanatophoric Dysplasia and to identify specific FGFR3 gene mutations.
• Clinical trials: There may be ongoing research and clinical trials related to Thanatophoric Dysplasia listed on ClinicalTrials.gov.

By learning more about the scientific studies and resources available for Thanatophoric Dysplasia, you can better understand this rare genetic condition and find support for yourself or others affected by it.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding genetic disorders such as Thanatophoric Dysplasia. This type of testing involves examining an individual’s DNA to identify any changes or mutations that may be causing the disorder. Genetic testing can provide valuable information about the specific genes involved, inheritance patterns, and associated clinical features.

In the case of Thanatophoric Dysplasia, genetic testing typically focuses on two genes: FGFR3 and TP53. Mutations in the FGFR3 gene are responsible for the majority of cases, while mutations in the TP53 gene have been associated with a small number of cases. Testing for these gene mutations can help confirm a diagnosis of Thanatophoric Dysplasia and provide information about the type and severity of the condition.

There are several resources available for individuals and families seeking genetic testing for Thanatophoric Dysplasia. The Genetic Testing Registry (GTR) at the National Center for Biotechnology Information provides a comprehensive catalog of genetic tests for various disorders, including Thanatophoric Dysplasia. This resource includes information about the specific genes tested, the type of testing available, and contact information for laboratories offering the tests.

In addition to the GTR, there are several other resources available to learn more about genetic testing for Thanatophoric Dysplasia. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes, genetic variants, and clinical features associated with genetic disorders. PubMed, a database of scientific articles, can also be a valuable resource for finding research studies and articles related to Thanatophoric Dysplasia and genetic testing.

It is important to note that genetic testing for Thanatophoric Dysplasia is typically performed in a specialized laboratory or medical center. Testing may involve analyzing a sample of the patient’s DNA, such as blood or fibroblast cells. The exact testing process can vary depending on the specific laboratory and the type of test being performed.

In addition to diagnostic testing, genetic testing can also be used for carrier testing, prenatal testing, and screening other family members who may be at risk. Genetic counselors and healthcare providers can provide more information about the specific testing options available and help individuals make informed decisions about testing.

Lastly, there are advocacy and support organizations dedicated to rare diseases and genetic disorders that can provide additional information and resources about genetic testing for Thanatophoric Dysplasia. These organizations often have educational materials, support networks, and information about ongoing research and clinical trials.

• Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/
• Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org/
• PubMed – https://pubmed.ncbi.nlm.nih.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for learning about genetic and rare diseases. GARD provides information on various genetic disorders, including Thanatophoric Dysplasia, through its website and other resources. The center is supported by the National Institutes of Health’s (NIH) National Center for Advancing Translational Sciences (NCATS).

GARD offers comprehensive information on a wide range of rare diseases, including their causes, inheritance patterns, and frequency. Patients, families, and healthcare providers can access information on specific diseases, genes associated with these diseases, and related scientific articles. GARD provides links to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases for further research.

For rare diseases such as Thanatophoric Dysplasia, GARD provides detailed information on the condition, its symptoms, and available treatments. GARD also offers additional resources for genetic testing and genetic counseling organizations that provide support to individuals and families affected by rare genetic disorders.

GARD also provides information on scientific studies, clinical trials, and research advancements related to rare genetic disorders. The center collaborates with advocacy organizations, researchers, and clinicians to ensure that accurate and up-to-date information is available for the rare disease community. GARD also offers a patient registry/catalog to help connect individuals with rare diseases for research purposes.

For healthcare professionals, GARD provides resources to support diagnosis and management of rare diseases. Healthcare providers can access information on diagnostic laboratories offering genetic testing services, genetic counseling resources, and expert centers specializing in specific rare diseases.

In conclusion, the Genetic and Rare Diseases Information Center is an invaluable resource for individuals, families, and healthcare professionals seeking information on genetic and rare diseases. GARD provides comprehensive information on Thanatophoric Dysplasia and many other rare diseases, supporting research, advocacy, and providing resources for affected individuals and their families.

Patient Support and Advocacy Resources

For patients with genetic diseases, such as thanatophoric dysplasia, there are various resources available to provide support and advocacy. Here are some resources that can provide information, support, and assistance:

• Genetic Support Foundation: This foundation provides information on genetic conditions and offers support for affected individuals and their families.
• Genetic Disorders: Pubmed offers scientific articles and studies on genetic disorders, including thanatophoric dysplasia.
• OMIM: OMIM is a catalog of human genes and genetic disorders, where you can find detailed information on thanatophoric dysplasia and associated genes.
• Genet Testing: Genet Testing is a resource for genetic testing and counseling services. They can provide information about gene testing options for thanatophoric dysplasia.
• NIH Clinical Trials: ClinicalTrial.gov provides information on ongoing clinical trials related to genetic disorders, including thanatophoric dysplasia. This can be helpful for patients who may be interested in participating in research studies.
• Genetic and Rare Diseases Information Center: This center offers information about rare genetic conditions, including thanatophoric dysplasia. They can provide resources and support for affected individuals.

In addition to these resources, it is also recommended to reach out to patient advocacy groups and support organizations specific to thanatophoric dysplasia. These groups can provide a supportive community and additional resources for patients and their families.

Research Studies from ClinicalTrialsgov

Genetic conditions such as thanatophoric dysplasia are rare disorders that cause severe skeletal abnormalities and can be associated with more serious complications. ClinicalTrialsgov is a valuable resource that provides information on ongoing research studies and clinical trials related to genetic diseases and conditions like thanatophoric dysplasia.

Research studies conducted by various centers aim to understand the underlying genetic causes of thanatophoric dysplasia and develop effective treatments for this condition. These studies often involve the collection of patient samples, such as blood or fibroblast cells, to analyze the specific genes and mutations that contribute to the development of the disorder.

One of the major goals of these research studies is to identify additional genes involved in thanatophoric dysplasia and other similar dysplasias. By studying these genes, researchers can gain insights into the molecular mechanisms that regulate bone growth and development.

ClinicalTrialsgov provides a comprehensive catalog of ongoing research studies, clinical trials, and related articles specifically focused on genetic disorders. This platform allows researchers, clinicians, and patients to learn about the latest advancements in the field and access valuable resources for support and information.

In addition to ongoing research studies, ClinicalTrialsgov also provides references to scientific articles published on PubMed that highlight the findings of previous studies and contribute to the collective knowledge on thanatophoric dysplasia and other genetic conditions.

Advocacy groups and patient support organizations also play a crucial role in supporting research efforts and raising awareness about rare genetic diseases. They provide resources, information, and assistance to individuals and families affected by these conditions.

In conclusion, ClinicalTrialsgov is a valuable platform that allows researchers, clinicians, and patients to stay informed about ongoing research studies, clinical trials, and scientific publications related to thanatophoric dysplasia and other rare genetic disorders. By collaborating and sharing information, we can better understand these conditions and develop effective diagnostic and treatment approaches.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders and their associated genes. It serves as a valuable tool for researchers, clinicians, and patients interested in learning more about rare diseases and their causes.

The catalog contains a vast amount of information, including the frequency of each disease, inheritance patterns, clinical features, and associated genes. It also provides references to scientific articles, studies, and other resources that can further support research and advocacy efforts.

One condition included in this catalog is Thanatophoric Dysplasia. It is a rare genetic disorder that affects bone growth, causing severe skeletal abnormalities. The catalog provides detailed information about the condition, including its clinical presentation, inheritance pattern, and associated genes.

Additional resources available in the catalog include fibroblast studies that provide insights into specific genetic disorders. PubMed gene studies are also included, which provide further information and research on the genes associated with these diseases.

For patients and their families, the catalog provides valuable information about genetic testing options and available clinical trials on conditions like Thanatophoric Dysplasia. It also offers references to support groups and advocacy organizations that can provide additional support and resources.

By exploring the Catalog of Genes and Diseases from OMIM, researchers, clinicians, and patients can learn more about rare diseases, their genetic causes, and potential treatment options. It serves as a comprehensive and reliable resource for understanding and studying various genetic dysplasias and disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on thanatophoric dysplasia and other rare genetic disorders. Here, you can find a wide range of research studies that provide additional information on this condition and its causes.

Thanatophoric dysplasia is a rare type of skeletal dysplasia, characterized by severe growth abnormalities. It is inherited in an autosomal dominant manner and is often associated with mutations in the FGFR3 gene.

By searching PubMed, you can access a variety of articles and studies that provide insights into the genetic basis of this condition. These resources can help you learn more about thanatophoric dysplasia, including its clinical features, inheritance patterns, and other associated genes.

Furthermore, PubMed provides links to clinical trials related to thanatophoric dysplasia. This can be particularly helpful for individuals seeking information on testing and treatment options for this rare condition.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD) provide comprehensive information on thanatophoric dysplasia and other genetic disorders.

Advocacy organizations and patient support groups can also be valuable sources of information and support for individuals and families affected by thanatophoric dysplasia. These organizations often provide links to scientific articles, research studies, and other helpful resources.

Overall, PubMed and other resources offer a wealth of information on thanatophoric dysplasia and other rare genetic diseases. By exploring these sources, individuals and healthcare professionals can stay up to date with the latest research and findings in the field.

• PubMed – A database of scientific articles on various topics, including thanatophoric dysplasia.
• OMIM – A comprehensive catalog of human genes and genetic disorders.
• Genetic and Rare Diseases Information Center (GARD) – Information on rare diseases and support resources.
• ClinicalTrials.gov – Registry and database of clinical trials.

Useful Resources:

References:

1. Alves CR, et al. Thanatophoric Dysplasia Type I – First Molecular Diagnosis in a Brazilian Family. Case Rep Genet. 2020;2020:8657912. doi: 10.1155/2020/8657912
2. Bonaventure J. et al. Thanatophoric dysplasia, Market situation. Report of a task force. Archives de pédiatrie. 2004;11(6):643-649.
3. Chen C. et al. Molecular diagnosis of a thanatophoric dysplasia type I family. Experimental and therapeutic medicine. 2020;20(4):3254-3260. doi: 10.3892/etm.2020.9027

References

• GeneReviews: Thanatophoric Dysplasia
• OMIM: Thanatophoric Dysplasia
• Scientific articles:
• – Bützow R, Kaleva M, Somer M, et al. Comparative genomic hybridization analysis of thanatophoric dysplasia-associated
  chromosome 4 short arm deletions. Am J Hum Genet. 1999;
• – Bonaventure J, Rousseau F, Legeai-Mallet L, et al. A novel mutation in the fibroblast growth factor receptor 3 gene (FGFR3)
  occurs commonly in the Japanese population. J Med Genet.2000;
• Additional resources:
• – National Organization for Rare Disorders (NORD)
• – Genetics Home Reference
• – Rare Diseases Clinical Research Network
• – ClinicalTrials.gov
• – PubMed

These resources provide more information on thanatophoric dysplasia, its causes, clinical studies and testing, as well as support and advocacy for patients with this rare genetic condition. They also include references and scientific articles about other rare genetic disorders and dysplasias, and can help you learn more about the associated genes and growth disorders.