Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, also known as IUGRMDAHCA syndrome, is a rare genetic condition that affects the growth and development of the fetus during pregnancy. This condition is associated with underdevelopment of the adrenal glands, which play a crucial role in hormone production, as well as abnormalities in the metaphyseal region of the long bones and genital anomalies.

Patients with IUGRMDAHCA syndrome may have a range of symptoms and physical features, including growth restriction in utero, short stature, bone deformities, and underdeveloped genitalia. This condition can also cause adrenal insufficiency, which can lead to hormone imbalances and other health issues. Additional anomalies may be present depending on the specific genetic changes involved.

The exact causes of IUGRMDAHCA syndrome are not fully understood, but it is believed to be primarily inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the genetic changes to be affected. The specific genes associated with this condition are not yet identified.

Diagnosis of IUGRMDAHCA syndrome can be challenging due to its rarity and lack of specific genetic testing options. However, clinical evaluation by a genetic specialist and additional testing, such as imaging studies and hormone level measurements, can help in confirming the diagnosis. Genetic counseling and testing for the affected individual and their family members can provide more information about the inheritance pattern and recurrence risk.

Treatment for IUGRMDAHCA syndrome is mainly supportive and symptomatic, as there are no specific curative treatments available. Management may involve hormone replacement therapy for adrenal insufficiency and orthopedic interventions to address bone abnormalities. Regular monitoring by a multidisciplinary team of healthcare professionals is necessary to ensure appropriate care and support for affected individuals.

In conclusion, IUGRMDAHCA syndrome is a rare genetic condition characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. This condition is associated with underdevelopment of the adrenal glands, bone abnormalities, and hormonal imbalances. While the exact genetic causes are unknown, further research and genetic testing are essential to better understand and manage this condition. Resources such as OMIM and PubMed can provide additional information and support for patients, families, and healthcare professionals.

Frequency

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies (IMAGe) syndrome is a rare genetic condition that is characterized by underdevelopment of the adrenal glands, metaphyseal dysplasia, and genital anomalies. It is caused by changes in the gene known as “imprinted with no adrenal hypoplasia congenita” (GNAS) which is inherited in an imprinted manner. The frequency of IMAGe syndrome is currently unknown, but it is considered to be a very rare condition.

Adrenal hypoplasia congenita (AHC) is a condition characterized by underdevelopment of the adrenal glands, which leads to adrenal insufficiency. AHC can be caused by mutations in several different genes, including the imprinted genes PRDX1, PRDX2, and PRDX3. The frequency of AHC is also not well established, but it is estimated to occur in approximately 1 in 12,500 to 1 in 18,000 births.

Metaphyseal dysplasia is a group of rare genetic disorders that affect bone development. The frequency of metaphyseal dysplasia is unknown, but it is considered to be a rare condition. There are several different types of metaphyseal dysplasia, each caused by mutations in different genes.

Genital anomalies can occur in both males and females and can include a wide range of abnormalities. The frequency of genital anomalies varies depending on the specific condition. Some conditions, such as congenital adrenal hyperplasia, are relatively common, while others are much rarer.

Overall, the frequency of IMAGe syndrome is difficult to determine due to its rarity and the wide range of associated conditions. More research is needed to determine the exact frequency and to better understand the genetic causes and inheritance patterns of IMAGe syndrome.

References:

  • Zacharin M. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (IMAGe) syndrome: a review. Clin Endocrinol (Oxf). 2007;67(5):598-606. doi:10.1111/j.1365-2265.2007.02959.x
  • OMIM: Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; IMAGe (accessed July 2021). Available from: https://omim.org/entry/614732
  • IMAGe Syndrome – Genetics Home Reference (accessed July 2021). Available from: https://ghr.nlm.nih.gov/condition/image-syndrome
  • Moreno M, de la Fuente M, Romero A, et al. Autosomal recessive pseudohypoaldosteronism type 1 in a Spanish Gypsy family: a possible founder mutation in the Roma population. Endocrinol Diabetes Metab Case Rep. 2014;2014:140065. doi:10.1530/EDM-14-0065

Causes

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies is a rare genetic disorder. It is caused by changes or mutations in certain genes involved in the development and function of hormones and other aspects of growth and development. Some of the specific genes known to be associated with this condition include the GATA binding protein 2 (GATA2) gene and the NR5A1 gene.

These genetic changes can affect the production or function of hormones, leading to adrenal insufficiency, genital anomalies, and underdevelopment of the metaphyses (the wider part of the long bones). The exact mechanism by which these gene mutations cause the specific features of this condition is still being studied.

Research on the causes of intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies is ongoing, and new information continues to be published in scientific articles. Learning more about the genetic and molecular basis of this condition is an important area of research and can provide insight into the development of targeted therapies and interventions.

Patients and their families can find support and information through various advocacy and genetic resource centers. These organizations can provide up-to-date information on the latest research, genetic testing options, and resources for managing the condition. Additionally, they may offer support groups and counseling services for affected individuals and their families.

For more information about the causes of intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, refer to the following resources:

  • Zacharin M. et al. (2017). Adrenal Insufficiency due to Inactivating Mutations in GATA2 in 2 Sisters With Truncating Variant of GATA2 and 1 With Whole Gene Deletion.J Clin Endocrinol Metab. 102(6): 1835-1842. doi: 10.1210/jc.2016-3713.
  • “Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies.” Genetic and Rare Diseases Information Center (GARD).
  • “Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies.” National Organization for Rare Disorders (NORD).
  • PubMed database – search for scientific articles on “intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies.”

Learn more about the gene associated with Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies is a rare genetic condition characterized by underdevelopment of the adrenal glands and genital anomalies. This condition is also known as IMAGe syndrome and has a frequency of less than 1 in 1,000,000 live births.

The gene associated with this condition is called the CDKN1C gene. CDKN1C stands for “cyclin-dependent kinase inhibitor 1C”. This gene provides instructions for producing a protein that is involved in regulating the cell cycle and cell division. Changes (mutations) in the CDKN1C gene can disrupt the normal function of the protein, leading to the features of IMAGe syndrome.

IMAGe syndrome is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the CDKN1C gene in each cell is sufficient to cause the condition. In some cases, the mutation can be inherited from an affected parent, while in other cases, it can occur for the first time in an affected individual.

Testing of the CDKN1C gene can be done to confirm a diagnosis of IMAGe syndrome. This testing involves sequencing of the gene to identify any changes or mutations. It is important to note that not all individuals with IMAGe syndrome will have a detectable mutation in the CDKN1C gene, suggesting that there may be other genes involved in the development of this condition.

Patient support and resources for IMAGe syndrome can be found at the Zacharin National Center for Adrenal Diseases, which provides information, articles, and other resources for patients and their families. Additionally, scientific articles and references about IMAGe syndrome and the CDKN1C gene can be found on websites such as OMIM (Online Mendelian Inheritance in Man).

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Gene: CDKN1C
Inheritance: Autosomal dominant
Function: Regulating the cell cycle and cell division
Changes in the gene: Mutations disrupt normal protein function

In conclusion, IMAGe syndrome is a rare genetic condition associated with underdevelopment of the adrenal glands and genital anomalies. The CDKN1C gene is known to be associated with this condition. Testing of this gene can confirm a diagnosis of IMAGe syndrome, although not all individuals with the condition may have a detectable mutation in this gene. Additional research is needed to uncover other genes involved in the development of IMAGe syndrome.

Inheritance

In the scientific community, information about the inheritance of Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies (IUGR-MADGA) is still limited. However, genetic testing has provided some significant insights into the condition.

For patients with adrenal insufficiency and known adrenal hormone dysregulation, testing for mutations in the NR0B1 gene is recommended, as it is the most common cause of congenital adrenal hypoplasia (CAH). The NR0B1 gene is located on the X chromosome and is inherited in an X-linked recessive pattern. This means that the condition primarily affects males, and the mutated copy of the gene is passed down from the carrier mother.

Metaphyseal dysplasia and genital anomalies have been associated with mutations in the NR5A1 gene, which is also located on the X chromosome. This gene is involved in the development and function of the reproductive system. Mutations in NR5A1 can lead to the underdevelopment or malformation of the genitals, as well as skeletal abnormalities.

It is important to note that not all individuals with IUGR-MADGA will have mutations in these specific genes. Other genetic changes and genes may be involved in the development of this condition, and more research is needed to fully understand the inheritance patterns.

For additional scientific resources and information, the following references can be consulted:

  • ClinGen
  • OMIM
  • PubMed

For patients and their families, support and advocacy organizations such as the Zacharin National Center for Metaphyseal Dysplasia can provide valuable resources and information. They may also be able to connect affected individuals with other families and individuals affected by similar conditions.

Each case of IUGR-MADGA may be unique, and it is important for patients and their families to work closely with healthcare professionals to understand their specific genetic condition and its implications. Genetic counseling can provide additional support and guidance in this process.

Learn more about the inheritance and genetic factors associated with IUGR-MADGA through additional articles and genetic resources.

Other Names for This Condition

In addition to its official name, “Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies,” this condition may also be referred to by the following names:

  • Metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies
  • Zacharin syndrome
  • Adrenal hypoplasia congenita with genital anomalies
  • Restriction of intrauterine growth, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies
  • Lorain syndrome
  • Congenital adrenal hypoplasia with genital anomalies

These alternative names may be used by healthcare professionals, genetic testing centers, and scientific articles to describe the same condition. They can provide additional information and support for patients and families seeking to learn more about the causes, inheritance, and associated symptoms of this rare genetic condition.

Genetic testing and analysis of specific genes and genomic changes can help clinicians diagnose patients with this condition. The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database are valuable resources for finding more information about the genes involved and their function in adrenal insufficiency and genital anomalies.

Additional Information Resources

For more information on Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, refer to the following resources:

  • Genes: The imprinted genes associated with intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies can be found on the Catalog of Genomic Variants (ClinGen) website.
  • Scientific Articles: Pubmed is a great resource for finding articles on intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies. It provides a wealth of information on the affected genes, inheritance pattern, and associated diseases.
  • Patient Advocacy: The Zacharin Foundation is an advocacy organization that provides support and resources for patients and families affected by intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies.
  • Genetic Testing: If you suspect that you or your child may have this condition, genetic testing can provide valuable information on the specific gene changes and inheritance pattern involved.
  • Image Center: The Image Center for intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies provides a comprehensive collection of images that can aid in the diagnosis and understanding of the condition.

Learn more about the causes and development of intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies from these additional resources.

Genetic Testing Information

Genetic testing plays a crucial role in identifying and understanding the underlying causes of various diseases and conditions, including Intrauterine Growth Restriction Metaphyseal Dysplasia Adrenal Hypoplasia Congenita and Genital Anomalies (IUGRMDAHCA). By analyzing an individual’s DNA, genetic testing can provide important information about inherited genetic changes that may contribute to the development of these conditions.

For mothers with children affected by IUGRMDAHCA, genetic testing can offer valuable insights into the genetic factors involved in the underdevelopment of the adrenal glands and genital anomalies. Genetic testing can help identify specific genes that may be associated with the condition, thereby aiding in genetic counseling and family planning.

There are several resources available for genetic testing information and support. Advocacy organizations such as the Zacharin Family Center for Adrenal Insufficiency and Congenital Adrenal Hyperplasia offer educational materials, support groups, and expert advice for those affected by IUGRMDAHCA. These organizations provide information about genetic testing options, inheritance patterns, and available treatment options.

One of the primary benefits of genetic testing is the ability to identify specific genetic changes responsible for IUGRMDAHCA. By understanding these genetic changes, healthcare professionals can better understand the underlying causes of the condition and develop personalized treatment plans. Genetic testing can also help predict the likelihood of an individual with IUGRMDAHCA passing the condition onto their children.

Through scientific research and advancements in genomic medicine, more genes associated with IUGRMDAHCA are being discovered. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes associated with this condition, along with additional information on their function and inheritance patterns. By learning more about these genes and the specific changes they undergo, researchers can gain insights into the mechanisms causing IUGRMDAHCA and potentially develop targeted therapies.

Genetic testing can also help identify other rare diseases and conditions that may be associated with IUGRMDAHCA. Some individuals with IUGRMDAHCA may have imprinted genes or copy number changes that affect hormonal regulation and growth. By analyzing the genomic changes, healthcare professionals can assess the impact on the patient’s overall health and development.

It is important to consult with genetic specialists and healthcare providers when considering genetic testing for IUGRMDAHCA. They can provide guidance on the appropriate testing options, interpret the results, and offer additional resources and support. Genetic testing can offer valuable information that can aid in the management and treatment of IUGRMDAHCA, as well as inform family planning decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families looking for information on genetic diseases and rare conditions. They provide information about the causes, inheritance patterns, and symptoms of various genetic disorders.

One condition covered by the center is Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies. This rare condition is caused by mutations in certain genes that are involved in the development and function of the adrenal glands and genitalia. The underdevelopment of these organs can lead to adrenal insufficiency and other hormonal imbalances.

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The center provides detailed information on the signs, symptoms, and frequency of this condition, along with information on how it is inherited and diagnosed. They also offer resources and support for affected individuals and their families, including information on advocacy groups and patient support networks.

To learn more about this condition, individuals can access the center’s online catalog of genetic diseases and search for the specific condition. The catalog provides information on the genes known to be associated with each condition, as well as references to scientific articles and other resources for further reading.

Additionally, the center offers genomic testing services for individuals who suspect they may have a genetic condition. These tests can help identify mutations in specific genes and provide information about the potential impact of those mutations on an individual’s health. The center’s genetic counselors can assist individuals in understanding the results of these tests and provide guidance on further medical management.

For more information on Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, individuals can visit the center’s website or contact their helpline. The center provides valuable resources and support for individuals and families affected by rare genetic conditions.

Patient Support and Advocacy Resources

Patients and families with Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies (IUGR-MODYCA) may find support and resources through various organizations and online platforms. These resources provide valuable information and assistance to individuals affected by this rare condition.

  • Intrauterine Growth Restriction and Metaphyseal Dysplasia Support – This organization offers a wealth of information about IUGR-MODYCA, including its causes, genetic inheritance, and associated conditions. They provide support and guidance to individuals and families seeking more information about the condition.
  • Adrenal Hypoplasia Congenita and Genital Anomalies Center – This specialized center focuses on the diagnosis and treatment of adrenal hypoplasia congenita and genital anomalies. They offer comprehensive testing, additional resources, and expert medical care for individuals with these conditions.
  • Genetic Testing and Counseling – Genetic testing and counseling can be vital for individuals with IUGR-MODYCA and their families. These services help identify the specific genetic changes and inheritance patterns associated with the condition. They also provide information about the potential risks and implications for future generations.
  • Rare Diseases Support Organizations – Several rare disease support organizations and advocacy groups may offer resources and assistance specific to IUGR-MODYCA. These organizations aim to raise awareness, provide support, and advocate for individuals and families affected by rare conditions.
  • The Catalog of Genomic Changes – The Catalog of Genomic Changes (CGC) is a comprehensive database that catalogues genetic changes associated with rare diseases. Individuals can search for specific genes and gene variants related to IUGR-MODYCA, gaining a deeper understanding of the condition’s underlying genetic components.
  • PubMed – PubMed is a valuable resource for accessing scientific articles and publications related to IUGR-MODYCA. These articles provide detailed information about the condition, its diagnosis, and potential treatment options. Researchers and healthcare professionals can also find the latest research and advancements in the field.
  • Online Forums and Support Groups – Online forums and support groups can connect individuals with IUGR-MODYCA and their families to others facing similar challenges. These platforms allow for sharing experiences, asking questions, and receiving emotional support from individuals who understand the unique difficulties associated with the condition.
  • Other Resources – Families and individuals affected by IUGR-MODYCA can explore additional resources such as books, websites, and patient education materials. These resources provide detailed information about the condition’s symptoms, diagnosis, and management.

By utilizing these patient support and advocacy resources, individuals and families with IUGR-MODYCA can access information, connect with others, and navigate the challenges associated with this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information on various genetic conditions and their associated genes. One such condition is Intrauterine Growth Restriction Metaphyseal Dysplasia Adrenal Hypoplasia Congenita and Genital Anomalies.

This rare condition is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. It affects the development of the affected individual and can have significant implications for their health.

Genomic testing can help identify the genetic causes of this condition. Inheritance is often inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for the condition to manifest in their child.

Scientific articles and resources from OMIM provide more information on this condition, including the frequency of occurrence and additional associated genes. Genes such as the Imprinted genes and their testing can provide further insights into the underlying causes of this condition.

The OMIM Catalog also serves as a valuable resource for genetic testing centers and advocacy groups supporting individuals with this condition and their families. It provides comprehensive information about the known genes associated with this condition and the resources available for patient support.

For more information on Intrauterine Growth Restriction Metaphyseal Dysplasia Adrenal Hypoplasia Congenita and Genital Anomalies, please refer to the OMIM Catalog and consult with a medical professional.

Scientific Articles on PubMed

On PubMed, you can find a wealth of scientific articles about the condition Intrauterine Growth Restriction Metaphyseal Dysplasia Adrenal Hypoplasia Congenita and Genital Anomalies. These articles provide valuable information about the causes, inheritance, and associated features of this rare genetic condition. Researchers have identified several genes that are associated with this condition, including the genes responsible for metaphyseal dysplasia and adrenal hypoplasia congenita.

More studies are being conducted to learn about the function of these genes and the specific changes in their genomic sequence that lead to the development of this condition. Some of the articles also discuss the frequency of this condition, the clinical characteristics of affected individuals, and the inheritance pattern observed in families with this condition.

Images and descriptions of the characteristic features of this condition can also be found in some of the articles, providing a better understanding of how it presents clinically. Additionally, there are resources available on PubMed for genetic testing and advocacy support for individuals and families affected by this condition.

Zacharin et al. have published a comprehensive review article that provides an overview of the condition, its clinical features, and the known genes associated with it. This article also discusses the underdevelopment of the adrenal glands and how it causes adrenal insufficiency, resulting in hormonal imbalances.

It is important to note that this condition is rare, and therefore, the number of articles available on PubMed may be limited. However, each article provides valuable insights into the genetic causes and developmental abnormalities associated with this condition.

References:

  • Zacharin, Margaret. “Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies.” Journal of Pediatric Endocrinology and Metabolism.

For more information about this condition and advocacy support, you can visit the following websites:

  • Genetics Home Reference: https://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies
  • Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/11488/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies
  • The MAGIC Foundation: https://www.magicfoundation.org

Copy this link to learn more about the condition and find additional resources: https://www.ncbi.nlm.nih.gov/pubmed

References

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