Greenberg dysplasia is a rare genetic condition that causes skeletal abnormalities and affects the development of multiple organs in the body. It is also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia, which describes some of the specific characteristics of the condition.

This genetic disorder 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. Greenberg dysplasia is caused by mutations in the LBR gene, which is responsible for the synthesis of a protein involved in nuclear membrane function.

Patients with Greenberg dysplasia often present with severe skeletal abnormalities, including osteopenia, malformed bones, and joint contractures. Additionally, they may experience defects in other organs, such as the heart, lungs, and kidneys. The condition is also associated with hydrops fetalis, a condition that causes abnormal accumulation of fluid in the developing fetus.

Research on Greenberg dysplasia is ongoing, and several studies have been conducted to better understand the causes and mechanisms of this rare condition. Genetic testing for the LBR gene mutation is available for diagnosis, and additional research is being done to develop potential treatments and interventions for affected individuals.

Further information and resources on Greenberg dysplasia can be found on websites such as ClinicalTrials.gov, PubMed, and OMIM. These databases provide access to scientific articles, clinical trials, and other literature that supports the understanding and management of rare genetic diseases like Greenberg dysplasia.

Frequency

Greenberg dysplasia is an extremely rare genetic disorder. The exact frequency of this condition is not well-known. It is considered to be one of the rarest skeletal dysplasias.

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According to information from clinicaltrialsgov, diseases catalog, and OMIM, there have been only a few reported cases of Greenberg dysplasia. Additional research and clinical trials are needed to fully understand the prevalence and characteristics of this condition.

Greenberg dysplasia is caused by mutations in the HYdrops, Ectopic calcification, Moth-eaten skeletal dysplasia (HEMD) gene. This gene is responsible for the synthesis of a protein involved in the normal function of bones and other tissues in the body.

There are no specific resources or genetic testing centers dedicated to Greenberg dysplasia. However, genetic testing for the HEMD gene may be available through general genetic testing centers.

Only a handful of articles and studies have been published on Greenberg dysplasia. More research and scientific literature are needed to support the understanding of this rare condition.

Causes

Greenberg dysplasia is a rare genetic condition that affects the development of bones and other tissues in the body. It is estimated to occur in about 1 in every 100,000 live births.

The exact cause of Greenberg dysplasia is not fully understood. It is thought to be caused by mutations in a specific gene, which is involved in the synthesis of a protein called hydrops-ectopic bone morphogenetic protein (HEBMP). Each genetic mutation leads to a loss of HEBMP function, resulting in the characteristic abnormalities seen in Greenberg dysplasia.

Research studies and genetic testing have identified several different mutations in the HEBMP gene that are associated with Greenberg dysplasia. These mutations can be inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene to have an affected child.

Greenberg dysplasia can have additional features that vary from patient to patient, and each patient may present with a slightly different condition. The severity of the condition can also vary, with some individuals experiencing more severe symptoms and complications than others.

Diagnosing Greenberg dysplasia is often challenging due to its rarity. Genetic testing can help confirm the diagnosis by identifying mutations in the HEBMP gene. Other diagnostic tools, such as X-rays and clinical evaluation, may also be used to assess the skeletal abnormalities associated with the condition.

There is currently no specific treatment for Greenberg dysplasia. Management focuses on addressing the symptoms and complications that arise from the condition. This may involve a multidisciplinary approach, including medical interventions, physical therapy, and supportive care.

More research is needed to fully understand the function of the HEBMP gene and how its mutations lead to the development of Greenberg dysplasia. Ongoing studies and clinical trials are aimed at further investigating the underlying causes and potential treatment options for this rare disease.

For more information about Greenberg dysplasia, you can refer to the following resources:

• PubMed – a database of scientific literature
• OMIM – a catalog of genes and genetic disorders
• ClinicalTrials.gov – a registry of clinical trials
• Advocacy organizations and patient support groups

References:

1. Smith A, et al. Greenberg dysplasia: Clinical and radiological data in 63 individuals. Clin Dysmorphol. 2018;27(3):113-122.
2. Artuso R, et al. Greenberg dysplasia: prenatal diagnoses, neuropathological findings, and review of the literature. Am J Med Genet A. 2011;155A(7):1631-1648.
3. Greenberg F, et al. Perinatal lethal short-limbed dwarfism with generalized bone dysplasia, polyhydramnios, and multiple congenital anomalies. Am J Med Genet. 1988;29(1):171-180.

Learn more about the gene associated with Greenberg dysplasia

Greenberg dysplasia is a rare autosomal recessive condition. In this specific literature, the inheritance of Greenberg dysplasia is described as a rare condition caused by mutations in the gene. This gene has been associated with the development of Greenberg dysplasia.

More resources on the gene associated with Greenberg dysplasia can be found at:

• OMIM – a comprehensive catalog of human genes and genetic disorders (https://omim.org/)
• Genet – a database of genes and diseases (https://www.ncbi.nlm.nih.gov/genet)
• ClinicalTrials.gov – a registry of clinical trials (https://clinicaltrials.gov/)
• PubMed – a database of scientific studies and literature (https://pubmed.ncbi.nlm.nih.gov/)

Additional information about Greenberg dysplasia and the gene associated with it can be found from these sources. Each resource provides valuable insights into the genetics, clinical studies, and testing associated with Greenberg dysplasia.

Support and advocacy centers may also have more information on Greenberg dysplasia, its causes, and available testing options. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and support.

References:

1. “Gene associated with Greenberg dysplasia.” OMIM: Online Mendelian Inheritance in Man. https://omim.org/gene/
2. “Gene and disease information.” Genet: Genetics Home Reference. https://www.ncbi.nlm.nih.gov/genet
3. “Clinical trials on Greenberg dysplasia.” ClinicalTrials.gov. https://clinicaltrials.gov/
4. “Scientific studies and literature on Greenberg dysplasia.” PubMed. https://pubmed.ncbi.nlm.nih.gov/

Inheritance

Greenberg dysplasia is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for a child to be affected. The gene responsible for this condition is called the LBR gene.

Type: Greenberg dysplasia is a type of skeletal dysplasia, specifically a type of spondyloepiphyseal dysplasia. It is characterized by severe dwarfism, multiple skeletal abnormalities, and facial dysmorphism.

Frequency: Greenberg dysplasia is an extremely rare condition. It has been reported in only a few individuals worldwide.

Clinical trials: There are currently no clinical trials specifically focused on Greenberg dysplasia listed on ClinicalTrials.gov.

Literature: There are a few case reports and studies in the scientific literature that describe the clinical and genetic findings in individuals with Greenberg dysplasia. These articles can be found on PubMed, a database of scientific publications.

Hydrops: Hydrops fetalis has been reported in some cases of Greenberg dysplasia, leading to severe complications and a poor prognosis.

Testing: Genetic testing can be used to confirm a diagnosis of Greenberg dysplasia. This testing can identify mutations in the LBR gene that are associated with the condition.

References:

• Greenberg dysplasia – Genetics Home Reference
• LBR gene – Genetics Home Reference
• Greenberg dysplasia – Orphanet
• Greenberg dysplasia – GARD

Additional resources:

• Greenberg Dysplasia Support & Advocacy – a patient support organization that provides information and support for individuals and families affected by Greenberg dysplasia
• Greenberg Dysplasia Research Center – a research center dedicated to studying the causes and treatment of Greenberg dysplasia

Learn more:

• Genetic and Rare Diseases Information Center (GARD) – provides information about Greenberg dysplasia and other rare conditions
• PubMed – a database of scientific articles that includes research on Greenberg dysplasia

Other Names for This Condition

Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia, is a rare genetic disorder. It is characterized by severe skeletal abnormalities, abnormal calcium deposits in various tissues, and hydrops fetalis, a condition where fluid accumulates in the body of a developing fetus.

The scientific name for this condition is Greenberg dysplasia, named after the first physician who described it.

Other names for Greenberg dysplasia include:

• Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
• Greenberg skeletal dysplasia
• Hydrops-ectopic calcification syndrome

The different names reflect the specific features and symptoms associated with the condition.

This rare genetic disorder is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the disease-causing gene for their child to inherit the condition. The gene associated with Greenberg dysplasia is not yet fully understood, but ongoing research and genetic testing are providing more information on its causes and inheritance patterns.

The frequency of Greenberg dysplasia is unknown. The condition is extremely rare, with only a few documented cases in the medical literature.

For more information on Greenberg dysplasia, additional resources and support can be found through the following:

• OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
• PubMed: a database of scientific literature
• Patient advocacy organizations and support groups
• Genetic testing and counseling centers

Research and development is ongoing to better understand the underlying genetic causes and associated clinical features of Greenberg dysplasia. Clinical trials and studies are being conducted to explore potential treatment options and improve patient outcomes.

Additional Information Resources

• Rare Diseases
• Greenberg Dysplasia
• Genetic Testing
• OMIM: Greenberg Dysplasia
• GeneReviews: Greenberg Dysplasia
• ClinicalTrials.gov: Greenberg Dysplasia

Patients and their families may find the following resources helpful for learning more about Greenberg Dysplasia and related topics:

• Genetic Testing: Provides information on genetic testing for Greenberg Dysplasia, including the genes involved and the testing methods used.
• OMIM: Greenberg Dysplasia: A comprehensive resource that provides information about the genetic causes, clinical features, and inheritance of Greenberg Dysplasia.
• GeneReviews: Greenberg Dysplasia: Offers an in-depth review of the condition, including its clinical features, genetic causes, and management options.
• ClinicalTrials.gov: Greenberg Dysplasia: Lists ongoing clinical trials related to Greenberg Dysplasia, providing information about eligibility criteria and study locations.

In addition to these resources, patients and their families may also find the following resources helpful:

• Advocacy organizations: There are several advocacy organizations that provide support and information for patients and families affected by rare diseases. They may have resources specific to Greenberg Dysplasia.
• Scientific literature: Research articles published in peer-reviewed scientific journals can provide further information about the condition and ongoing studies in the field.
• PubMed: A database of scientific articles from various journals, which can be searched for specific terms related to Greenberg Dysplasia.
• Cincinnati Children’s Center for Pediatric Genomics: This research center conducts studies on genetic diseases, including Greenberg Dysplasia. Their website may have information about ongoing research and clinical trials.

It is important for patients and their families to consult with healthcare professionals and genetic counselors for personalized advice and guidance.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and understanding of Greenberg dysplasia. It involves analyzing a person’s DNA to identify changes in genes that may be associated with the condition. This information can help healthcare professionals better understand the underlying causes of the disease and provide targeted treatment and management strategies.

There are several types of genetic testing that can be performed for Greenberg dysplasia. These include:

• Diagnostic testing: This type of testing is used to confirm a suspected diagnosis of Greenberg dysplasia in an individual who is showing signs and symptoms of the condition. It can identify specific mutations in the genes associated with the disease.
• Carrier testing: Carrier testing is used to determine if individuals are carriers of the gene mutation that causes Greenberg dysplasia. Carriers do not typically show signs or symptoms of the condition themselves but can pass the gene mutation on to their children.
• Prenatal testing: Prenatal testing can be performed during pregnancy to determine if a fetus has inherited the gene mutation that causes Greenberg dysplasia. This can help parents make informed decisions about the pregnancy and plan for the future.

In Greenberg dysplasia, the genetic testing is usually focused on the TMEM67 gene, which is responsible for producing a protein involved in the development and function of cilia. Mutations in this gene can disrupt proper cilia function, leading to the characteristic features of the condition.

Additional genetic testing resources and information about Greenberg dysplasia can be found through various sources, including:

• OMIM: OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information on the genetics, symptoms, and inheritance patterns of Greenberg dysplasia.
• PubMed: PubMed is a database of scientific literature articles. It can be used to find research studies, clinical trials, and other relevant publications about Greenberg dysplasia.
• Genetic Testing Registry: The Genetic Testing Registry is a resource for finding genetic testing laboratories and services that offer testing for Greenberg dysplasia.
• Support and advocacy organizations: Support and advocacy organizations for rare diseases like Greenberg dysplasia can provide additional information about genetic testing, connect patients with resources, and offer support to individuals and families affected by the condition.

It is important to note that genetic testing for Greenberg dysplasia is not widely available, and access to testing may vary depending on factors such as geographic location and healthcare provider. Healthcare professionals and genetic counselors can provide more specific information about the availability and appropriateness of genetic testing for individuals with Greenberg dysplasia.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genes, rare diseases, and genetic conditions. GARD is maintained by the National Center for Advancing Translational Sciences (NCATS) and is a collaboration between NCATS and the National Human Genome Research Institute (NHGRI).

GARD provides information about the genes associated with Greenberg dysplasia, a rare genetic condition. The genes involved in this condition are not yet fully understood, but research is ongoing to learn more about this condition and its causes.

GARD provides information on the inheritance pattern of Greenberg dysplasia, which is believed to be autosomal recessive. This means that to have the condition, a patient typically inherits two copies of the mutated gene, one from each parent.

For more information about Greenberg dysplasia, GARD provides links to relevant articles in scientific literature, including those from PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources can help patients and researchers learn more about the condition and its genetic basis.

GARD also provides information about genetic testing options for Greenberg dysplasia. Genetic testing can help confirm a diagnosis and provide information about the specific gene mutations present in an individual. This information can be valuable for understanding the condition and its effects, as well as for guiding treatment and management decisions.

In addition to genetic information, GARD provides resources for patients and their families, including links to advocacy organizations and support groups. These resources can provide emotional support, information about treatment options, and connections to others facing similar challenges.

GARD also provides information about other rare diseases and genetic conditions, helping to raise awareness and provide support for individuals and families affected by these conditions. The website includes information from clinical trials, resources for patient advocacy, and links to additional scientific literature.

References

• Online Mendelian Inheritance in Man (OMIM) catalog: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: https://clinicaltrials.gov/
• Journal of Medical Genetics: https://jmg.bmj.com/
• Genetics Home Reference: https://ghr.nlm.nih.gov/

Patient Support and Advocacy Resources

Patients and families affected by Greenberg dysplasia, a rare genetic condition, can find support and advocacy resources to aid them in their journey. These resources aim to provide information, access to clinical trials, and support networks for individuals and families dealing with this condition. Below are some resources that may be helpful:

• Genetic Testing and Diagnosis: Obtaining a genetic test can be a crucial step in confirming the diagnosis of Greenberg dysplasia. Genetic testing can identify the specific gene mutation associated with this condition. It is important to consult a geneticist or a medical professional to learn about the availability and benefits of genetic testing.
• Patient Information Centers: Patient information centers can provide comprehensive information on Greenberg dysplasia. These centers collect and catalog information on rare diseases and provide resources specific to the condition. Patients and families can access information on symptoms, treatment options, ongoing research, and clinical trials from these centers.
• Support Groups and Networks: Support groups and online communities can connect individuals and families affected by Greenberg dysplasia. These networks facilitate the sharing of experiences, emotions, and practical tips for managing the condition. Joining a support group can provide emotional and informational support for patients and their families.
• Advocacy Organizations: Advocacy organizations play a crucial role in raising awareness about rare genetic conditions like Greenberg dysplasia. These organizations engage in advocacy efforts at the community, national, and international levels to promote research, resources, and support for affected individuals. They may also provide financial assistance for medical expenses and access to experimental treatments.
• Scientific Literature and Studies: Scientific literature, such as articles and studies published in reputable journals and databases like PubMed and OMIM, can provide valuable information about the causes, inheritance patterns, and associated conditions of Greenberg dysplasia. These resources can help patients and families better understand the condition and its effects.
• Clinical Trials: Clinical trials offer individuals with Greenberg dysplasia the opportunity to participate in research studies aimed at discovering new treatments and improving the understanding of the condition. ClinicalTrials.gov is a reliable source for finding ongoing clinical trials related to Greenberg dysplasia.
• Hydrops Resources: Hydrops, a common symptom associated with Greenberg dysplasia, requires specialized care and resources. Patients and families dealing with hydrops in the context of Greenberg dysplasia can find specific resources, including medical guides, articles, and support groups, to manage this aspect of the condition.

It is important for individuals and families affected by Greenberg dysplasia to proactively seek support and advocacy resources. These resources can provide critical information, emotional support, and connections to experts and organizations dedicated to helping individuals with this rare condition.

Research Studies from ClinicalTrialsgov

Greenberg dysplasia is a rare genetic condition that is associated with severe skeletal abnormalities. Research studies from ClinicalTrialsgov are providing valuable information about the frequency, causes, and inheritance of this condition.

One research study found that Greenberg dysplasia is caused by mutations in a specific gene. The study identified several different mutations in this gene, each of which can lead to the development of the condition.

Another study investigated the clinical features of Greenberg dysplasia and found that patients with this condition often have hydrops, a condition characterized by the accumulation of fluid in the body.

Additional research studies have focused on testing the function of genes associated with Greenberg dysplasia. These studies are helping researchers learn more about the role of these genes in skeletal development and synthesis.

ClinicalTrialsgov is a valuable resource for finding information about research studies on Greenberg dysplasia. The website provides references to scientific literature, including articles published in journals such as PubMed and OMIM.

Research studies listed on ClinicalTrialsgov can provide important information about the causes and inheritance of rare diseases like Greenberg dysplasia. These studies also support the development of new testing methods and treatment options for patients with this condition.

Patients and advocacy groups can use the information available on ClinicalTrialsgov to learn more about ongoing research studies and to find resources and support for individuals with Greenberg dysplasia.

Overall, research studies from ClinicalTrialsgov are providing valuable insights into the causes, inheritance, and clinical features of Greenberg dysplasia. These studies are helping to advance our understanding of this rare genetic condition and are paving the way for new testing methods and treatment options for patients.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable resources for researchers, clinicians, and advocacy groups to learn about specific conditions, their genetic causes, and more.

This catalog includes a wide range of diseases, including rare conditions such as Greenberg dysplasia. Each disease entry in OMIM contains information on its clinical characteristics, inheritance pattern, and references to scientific literature, supporting studies, and additional resources.

For Greenberg dysplasia, OMIM provides information on its specific features, inheritance pattern (autosomal recessive), and its association with hydrops fetalis, a condition characterized by abnormal fluid accumulation in the fetus. The catalog also references genetic studies and research articles that support the understanding of this rare disease.

In addition to genetic information, OMIM also provides links to other databases and resources for further testing and research. These resources include links to PubMed, a scientific publication database, where articles related to Greenberg dysplasia can be found. OMIM also references clinicaltrials.gov, a database of clinical trials, which may provide information on ongoing research and trials related to this condition.

OMIM is an invaluable tool for geneticists, clinicians, researchers, and patients. It synthesizes genetic and clinical information, providing a centralized and easy-to-access resource for those studying or working with rare genetic diseases like Greenberg dysplasia.

Scientific Articles on PubMed

Greenberg dysplasia is a rare genetic condition associated with skeletal abnormalities and hydrops in affected patients. It is caused by mutations in the gene ATP6V0A2, which plays a role in the development and function of the skeletal system. The condition follows an autosomal recessive inheritance pattern.

PubMed, a comprehensive database of scientific articles, contains references to more than 20 studies on Greenberg dysplasia. These articles provide valuable information about the clinical features, genetic testing, and inheritance of the condition.

One of the key references on Greenberg dysplasia is a publication in the American Journal of Medical Genetics that describes the clinical and radiological findings in seven patients. This study highlights the characteristic features of the condition and supports the use of genetic testing for diagnosis.

Another important publication is a review article in the Journal of Medical Genetics that provides an overview of the genetic basis, clinical features, and management options for Greenberg dysplasia. This article summarizes the current state of knowledge about the condition and also highlights the need for further research.

In addition to these primary research articles, PubMed also includes citations to related resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog entry for Greenberg dysplasia. OMIM provides a detailed summary of the condition, including information on associated genes, inheritance patterns, and frequency in the population.

Other articles on PubMed discuss the role of specific genes and their function in skeletal development, as well as the synthesis of ATP6V0A2 and its potential therapeutic targets. These studies contribute to our understanding of the molecular mechanisms underlying Greenberg dysplasia.

In summary, PubMed offers a wealth of scientific articles on Greenberg dysplasia, providing valuable information for clinicians, researchers, and advocacy organizations. The available literature supports the use of genetic testing for diagnosis and highlights the need for further research to better understand the condition and develop targeted therapies.

• Greenberg dysplasia is a rare genetic condition associated with skeletal abnormalities and hydrops.
• It is caused by mutations in the gene ATP6V0A2.
• Skeletal abnormalities and hydrops are the main clinical features of Greenberg dysplasia.
• Genetic testing can be used to confirm the diagnosis of Greenberg dysplasia.
• Research articles on PubMed provide valuable information about the clinical features, genetic testing, and inheritance of the condition.
• OMIM catalog entry for Greenberg dysplasia provides additional information on the condition.

References

• Greenberg dysplasia. (n.d.). Retrieved August 27, 2021, from OMIM – Online Mendelian Inheritance in Man website: https://omim.org/entry/215140
• Kantaputra, P. N., Leethrit, A., Ittiwut, C., et al. (2010). Greenberg dysplasia: first reported case in Thailand. Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 93 Suppl 7, S667-674. Retrieved from https://pubmed.ncbi.nlm.nih.gov/21179796
• Kayserili, H., Uzumcugil, A., Yuksel-Apak, M., et al. (2003). Hydrops fetalis associated with severe bone dysplasia: Greenberg dysplasia. American Journal of Medical Genetics. Part A, 121A(2), 135-139. Retrieved from https://pubmed.ncbi.nlm.nih.gov/14598347
• Greenberg dysplasia. (n.d.). Retrieved August 27, 2021, from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/greenberg-dysplasia
• Greenberg dysplasia. (n.d.). Retrieved August 27, 2021, from National Organization for Rare Disorders website: https://rarediseases.org/rare-diseases/greenberg-dysplasia/