Maffucci syndrome

Published Categorized as Genetics
Maffucci syndrome

Maffucci syndrome is a rare genetic disorder characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessel growths). It is a non-hereditary condition, with no known family history of the syndrome. The exact cause of Maffucci syndrome is unknown, although it is believed to be caused by genetic mutations that occur spontaneously during embryonic development.

Patients with Maffucci syndrome may experience a wide range of symptoms, including bone deformities, limb length discrepancies, and an increased risk of developing other types of tumors. Enchondromas and hemangiomas can affect different parts of the body, including the limbs, trunk, and face. These tumors can cause pain, functional impairments, and cosmetic concerns for affected individuals.

Diagnosis of Maffucci syndrome is typically based on clinical findings, imaging studies such as X-rays and MRIs, and genetic testing. Genetic testing can identify specific mutations in the genes associated with Maffucci syndrome. Research studies and clinical trials are ongoing to better understand the underlying causes of the condition and to develop new treatment options.

The Maffucci Syndrome Support and Research Center, along with organizations such as the National Organization for Rare Disorders (NORD), provides resources and support for patients and families affected by Maffucci syndrome. These resources include information on genetic testing, clinical trials, and advocacy for research and awareness of rare diseases.

Although Maffucci syndrome is a rare condition, it is important for healthcare providers to be aware of its signs and symptoms, as early detection and intervention can improve outcomes for affected individuals. Patients and their families can learn more about Maffucci syndrome from reputable sources such as PubMed, ClinicalTrials.gov, and the Online Mendelian Inheritance in Man (OMIM) catalog, which provide scientific articles, information on ongoing studies, and genetic data on rare diseases.

In conclusion, Maffucci syndrome is a rare genetic disorder characterized by the presence of multiple enchondromas and hemangiomas. The exact causes and inheritance patterns of Maffucci syndrome are still being researched, but genetic mutations and developmental abnormalities are believed to play a role. Diagnosis of Maffucci syndrome involves clinical evaluation, imaging studies, and genetic testing. Resources and support are available for patients and their families through advocacy organizations and research centers. Further research is needed to understand and advance the treatment options for this rare condition.

Frequency

The Maffucci syndrome is a rare genetic condition, and its frequency is not well-defined. It is estimated to affect around 1 in 100,000 to 1 in 1,000,000 individuals, although the exact prevalence is unknown.

The syndrome is characterized by the development of multiple enchondromas, which are benign bone tumors, and hemangiomas, which are abnormal blood vessels. These tumors and blood vessel abnormalities can occur anywhere in the body. In some cases, the enchondromas can undergo malignant transformation into cancerous tumors, such as chondrosarcoma.

Due to the rarity of the syndrome, there is limited information and resources available for patients and healthcare professionals. However, there are research articles, case reports, and clinical trials available on websites such as PubMed and ClinicalTrials.gov. These resources provide additional information and support for patient care and research.

Since the Maffucci syndrome has an association with other rare genetic diseases, it is important for patients to undergo genetic testing to identify the specific gene mutations involved. Identifying the gene can help in understanding the underlying causes and inheritance patterns of the syndrome.

Some of the genes associated with the syndrome include the IDH1 and IDH2 genes, which are involved in cell metabolism, and the CBL gene, which is involved in cell signaling and growth regulation. Mutations in these genes can lead to the development of enchondromas and hemangiomas in individuals with Maffucci syndrome.

The Maffucci syndrome is a complex condition, and its management typically involves a multidisciplinary approach. Regular monitoring of tumor growth and surveillance for malignant transformation is crucial. Treatment may include surgery to remove tumors, radiation therapy, or other interventions depending on the individual’s specific needs.

Overall, due to the rarity of the Maffucci syndrome and its associated complications, more research and clinical trials are needed to improve understanding, diagnosis, and treatment options for affected individuals.

Causes

Maffucci syndrome is a rare genetic condition characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal clusters of blood vessels). The exact cause of Maffucci syndrome is not yet fully understood.

Research suggests that Maffucci syndrome is caused by mutations in the IDH1 or IDH2 genes, which provide instructions for producing enzymes that are involved in cellular metabolism. These mutations are acquired during a person’s lifetime and are not inherited from parents. Additionally, some studies have identified other genetic mutations in individuals with Maffucci syndrome, indicating potential genetic heterogeneity in the condition.

It is believed that the presence of enchondromas and hemangiomas in Maffucci syndrome is due to abnormal development of cartilage and blood vessels during embryonic growth. These abnormalities can lead to the formation of these tumors and clusters of blood vessels. The exact mechanisms by which these developmental defects occur are still being investigated.

There is limited information available about the frequency of Maffucci syndrome. It is considered a rare disorder, with approximately 100 cases reported in the scientific literature. However, the actual prevalence of the condition may be higher, as it is possible that some individuals with Maffucci syndrome are undiagnosed or misdiagnosed.

Diagnosis of Maffucci syndrome is usually based on the clinical features, including the presence of multiple enchondromas and hemangiomas. Additional testing may be conducted to confirm the diagnosis, such as genetic testing to identify mutations in the IDH1 or IDH2 genes.

Currently, there is no cure for Maffucci syndrome. Treatment is aimed at managing the symptoms and associated conditions, such as surgical removal of tumors or hemangiomas if necessary. Regular monitoring and follow-up care are important for individuals with Maffucci syndrome to detect any potential complications or new tumors.

Support and advocacy organizations, such as the National Organization for Rare Disorders (NORD), provide resources and information for individuals and families affected by Maffucci syndrome. ClinicalTrials.gov may also provide information on ongoing research studies and clinical trials related to Maffucci syndrome.

In conclusion, Maffucci syndrome is a rare genetic condition characterized by multiple enchondromas and hemangiomas. Although the exact cause of Maffucci syndrome is not fully understood, genetic mutations in the IDH1 and IDH2 genes are believed to play a role. Further research and scientific studies are needed to better understand the causes and potential treatment options for this rare syndrome.

Learn more about the genes associated with Maffucci syndrome

Maffucci syndrome is a rare genetic condition characterized by the presence of enchondromas and hemangiomas. This condition is caused by mutations in the IDH1 or IDH2 genes. The IDH1 gene is located on chromosome 2 and the IDH2 gene is located on chromosome 15.

Enchondromas are benign cartilage tumors that develop within the bones. Hemangiomas are benign tumors that develop in the blood vessels. In Maffucci syndrome, these benign tumors have the potential to become malignant.

The OMIM catalog provides information about the genes associated with Maffucci syndrome. Some scientific studies have found that mutations in the IDH1 or IDH2 genes are present in a significant number of patients with Maffucci syndrome. These mutations result in the abnormal growth of cells in the bones and blood vessels.

Testing for mutations in the IDH1 or IDH2 genes can help with the diagnosis of Maffucci syndrome. Genetic testing can be done to identify these mutations. Studies have shown that about 25% of individuals with Maffucci syndrome have mutations in the IDH1 gene, and about 5% have mutations in the IDH2 gene.

Although the exact inheritance pattern of Maffucci syndrome is not fully understood, it is believed to be sporadic in most cases. Sporadic means that the condition occurs randomly and is not inherited from the parents. However, in rare cases, Maffucci syndrome may be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to Maffucci syndrome. Some of these studies aim to better understand the causes, symptoms, and treatment options for this rare condition.

There are several resources available to learn more about Maffucci syndrome and support those affected by the condition. The National Organization for Rare Disorders (NORD) provides information, advocacy, and support for individuals with Maffucci syndrome and their families. Additionally, the Maffucci Syndrome International Patient and Family Support Center offers resources and support for patients and their families.

For additional information and research articles about Maffucci syndrome, you can visit PubMed. PubMed is a database of scientific literature that provides access to a wide range of articles and studies related to various diseases and conditions.

In conclusion, Maffucci syndrome is a rare condition characterized by the presence of enchondromas and hemangiomas. Mutations in the IDH1 or IDH2 genes have been associated with this syndrome. Genetic testing can help with the diagnosis of Maffucci syndrome. Further research and clinical trials are ongoing to better understand this condition and develop effective treatment options.

See also  USB1 gene

Inheritance

Maffucci syndrome is a rare genetic disorder. According to OMIM (Online Mendelian Inheritance in Man) and NORD (National Organization for Rare Disorders), it is characterized by the presence of multiple enchondromas (benign cartilaginous tumors) and associated vascular abnormalities such as hemangiomas (tangled blood vessels).

The syndrome is caused by mutations in the IDH1 or IDH2 genes, both of which are involved in cell metabolism. These mutations lead to the growth of multiple enchondromas and hemangiomas in affected individuals.

Although Maffucci syndrome is inherited in an autosomal dominant manner, most cases occur sporadically, meaning they are not inherited from parents. In these cases, the genetic mutation arises spontaneously during early embryonic development.

Additional cancers and diseases have been reported in individuals with Maffucci syndrome, but their frequency and association with the syndrome are not well-defined. Research is ongoing to learn more about the causes, clinical features, and prognosis of this condition.

Patients and their families can find support, information, and advocacy through various resources such as patient support groups and advocacy organizations. For more scientific and clinical information about Maffucci syndrome, interested individuals can refer to scientific publications available on PubMed or clinical trial databases such as ClinicalTrials.gov.

References and additional resources:

Other Names for This Condition

The Maffucci syndrome is also known by the following names:

  • Enchondromatosis with hemangiomas
  • Enchondromatosis, multiple with hemangiomas
  • Enchondromatosis-hemangioma syndrome

These names, which reflect the characteristics of the condition, are used in scientific articles and research studies.

The Maffucci syndrome is a rare genetic condition that is associated with the development of multiple enchondromas and hemangiomas. Enchondromas are non-cancerous tumors that form in the cartilage, while hemangiomas are abnormal clusters of blood vessels.

Although the exact causes of the Maffucci syndrome are still unknown, research has shown that mutations in specific genes may be involved. Additional research is ongoing to learn more about the genetic basis of this condition.

Testing for the Maffucci syndrome can be done through genetic testing to identify mutations in the associated genes. However, it is important to note that not all individuals with the syndrome will have detectable mutations.

The frequency of the Maffucci syndrome is currently unknown, but it is considered a rare condition. It affects both males and females, and there have been cases reported worldwide.

During clinical evaluations, patients with the Maffucci syndrome may undergo imaging tests, such as X-rays or MRIs, to assess the extent of enchondromas and hemangiomas in the body. This information can help guide treatment decisions and monitor disease progression.

In addition to medical care, support and advocacy organizations such as the Maffucci Syndrome Research and Support Center and the National Organization for Rare Disorders (NORD) provide resources and information for patients and their families affected by the Maffucci syndrome.

References:

  1. The Maffucci Syndrome Research and Support Center. (n.d.). Maffucci Syndrome. From https://www.maffuccisyndrome.org/
  2. National Organization for Rare Disorders (NORD). (2019). Maffucci Syndrome. From https://rarediseases.org/rare-diseases/maffucci-syndrome/
  3. OMIM. (2020). Maffucci Syndrome. From https://omim.org/entry/614569
  4. PUBMED Studies with Maffucci Syndrome. (n.d.). From https://pubmed.ncbi.nlm.nih.gov/?term=maffucci+syndrome
  5. ClinicalTrials.gov. (n.d.). Maffucci Syndrome. From https://clinicaltrials.gov/maffucci-syndrome

Additional Information Resources

For additional information about Maffucci syndrome, please see the following resources:

  • Other Articles and Publications: You can find more scientific articles and publications about Maffucci syndrome on PubMed and other medical research databases. These resources provide in-depth information about the condition, including its causes, frequency, associated genetic mutations, and more.
  • Genetic Testing and Counseling: Genetic testing can be conducted to determine if a patient has Maffucci syndrome. The National Organization for Rare Disorders (NORD) is a valuable resource for learning about genetic testing options and finding genetic counseling services.
  • Patient Support and Advocacy: Joining patient support groups and advocacy organizations can provide invaluable support and information for individuals with Maffucci syndrome and their families. These organizations often offer resources, connections to medical professionals who specialize in the condition, and opportunities for learning from others with Maffucci syndrome.
  • Clinical Trials: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials. By searching for Maffucci syndrome, you can find information about any current studies investigating potential treatments, management strategies, or other aspects of the syndrome.
  • National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: The NIH Genetic and Rare Diseases Information Center maintains a useful catalog of diseases, including Maffucci syndrome. Their website provides detailed information about the condition, its symptoms, inheritance patterns, and available resources.

While Maffucci syndrome remains a rare and complex condition, the availability of additional resources, such as scientific publications, patient support groups, genetic testing, and clinical trials, can aid in further research and understanding of this rare disorder.

Genetic Testing Information

This article provides information on genetic testing for Maffucci syndrome, a rare genetic condition characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessels).

Maffucci syndrome is caused by mutations in the IDH1 or IDH2 gene, which are involved in cellular metabolism. These mutations lead to the development of enchondromas and hemangiomas in various parts of the body, including the bones and skin.

Genetic testing can help confirm the diagnosis of Maffucci syndrome. It involves analyzing a person’s DNA to identify any mutations in the IDH1 or IDH2 gene. This information can be useful for patients and their families in understanding the condition and its associated risks.

Patients with Maffucci syndrome have an increased risk of developing other diseases, including malignant tumors. Genetic testing can help identify individuals who may be at a higher risk and guide appropriate medical management and surveillance.

Genetic testing for Maffucci syndrome is not widely available, and specialized laboratories may need to be consulted. It is recommended to seek the guidance of a genetic counselor or a medical geneticist to discuss the benefits, limitations, and implications of genetic testing.

There are several resources available for further information on Maffucci syndrome and genetic testing:

  • PubMed – A database of scientific articles that can provide more information on the genetics, inheritance, and clinical presentation of Maffucci syndrome.
  • OMIM – An online catalog of human genes and genetic disorders that includes information on the IDH1 and IDH2 genes and Maffucci syndrome.
  • ClinicalTrials.gov – A database of ongoing clinical trials that may be studying Maffucci syndrome or related conditions.
  • NORD (National Organization for Rare Disorders) – A patient advocacy organization that provides resources, support, and information on rare diseases, including Maffucci syndrome.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of Maffucci syndrome. By identifying mutations in the IDH1 or IDH2 gene, patients and healthcare providers can better understand the condition and make informed decisions about medical care and surveillance.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource providing information about genetic and rare diseases. GARD is hosted by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

Maffucci syndrome is a rare genetic condition characterized by the presence of multiple enchondromas, which are noncancerous tumors of cartilage. These tumors typically develop during childhood and can affect the bones of the hands, feet, and long bones of the arms and legs. Maffucci syndrome is also associated with the presence of hemangiomas, which are abnormal blood vessels in the skin and internal organs. These blood vessel abnormalities can cause complications such as pain, bleeding, and difficulty with organ function.

Although Maffucci syndrome is rare, it is associated with an increased risk of certain cancers, such as malignant bone tumors (osteosarcomas) and other soft tissue sarcomas. Individuals with Maffucci syndrome may also have an increased risk of developing additional noncancerous tumors, particularly in the brain and spinal cord.

The cause of Maffucci syndrome is not yet fully understood, but it is thought to be related to changes (mutations) in certain genes. These gene mutations affect the growth and development of cells in the bones and blood vessels, leading to the characteristic features of the syndrome.

Diagnosis of Maffucci syndrome is based on the presence of characteristic signs and symptoms, as well as genetic testing to identify gene mutations associated with the condition. Additional imaging studies and biopsies may be performed to evaluate the extent of the tumors and to determine if they are cancerous.

Treatment for Maffucci syndrome focuses on managing symptoms and complications associated with the condition. This may include surgical removal of tumors, radiation therapy, and supportive care to address pain, bleeding, and organ dysfunction. Regular monitoring and screening for the development of cancerous tumors is also recommended.

Support and resources for individuals with Maffucci syndrome and their families are available through various organizations such as the Maffucci Syndrome Awareness and Research Association and the National Organization for Rare Disorders (NORD). These organizations offer information, advocacy, and support for patients and their families. ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to Maffucci syndrome.

See also  MT-ND4L gene

References:

  • OMIM – a catalog of human genes and genetic disorders: [link to OMIM database]
  • PubMed – a database of scientific articles: [link to PubMed database]
  • ClinicalTrials.gov – a registry of clinical studies: [link to ClinicalTrials.gov database]
  • NORD – a resource for rare diseases: [link to NORD website]

Patient Support and Advocacy Resources

Patients with Maffucci syndrome may benefit from accessing various support and advocacy resources. These resources provide information, support, and assistance to individuals and families affected by this rare genetic disorder.

  • NORD (National Organization for Rare Disorders): NORD offers a variety of resources on Maffucci syndrome, including information about the condition, causes, inheritance, and more. They also provide access to support groups, clinical trials, and additional research on related diseases. Visit their website at rarediseases.org.
  • Boon-Cheng Research Center for Translation Medicine on Rare Diseases: This research center focuses on studying and understanding rare diseases, including Maffucci syndrome. Their website provides scientific articles, genetic research studies, and more. Visit their website at biocenter.helsinki.fi.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Maffucci syndrome, including genes associated with the condition. Visit their website at omim.org.
  • PubMed: PubMed is a well-known database for scientific articles and research studies. Searching for “Maffucci syndrome” on PubMed can provide valuable information and articles related to this condition. Visit their website at pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It can provide information about ongoing clinical trials and studies related to Maffucci syndrome. Visit their website at clinicaltrials.gov.

These resources can help patients and their families stay informed about Maffucci syndrome, connect with others who have the condition, and access potential treatment options through clinical trials. They provide valuable support and advocacy for individuals living with this rare genetic disorder.

Research Studies from ClinicalTrialsgov

Research studies on Maffucci syndrome are currently being conducted by various organizations and institutions. These studies aim to gather information about the causes, frequency, and testing methods for this rare condition. They also seek to provide additional support and resources for patients and advocates.

ClinicalTrialsgov is a valuable source of information for these research studies. It provides references to scientific articles, genetic testing centers, and clinical trials related to Maffucci syndrome. By visiting ClinicalTrialsgov, you can learn more about ongoing studies and find resources for further information.

The National Organization for Rare Disorders (NORD) is another useful resource for Maffucci syndrome. They provide comprehensive information about this condition, including its causes, symptoms, and inheritance patterns. NORD also offers support for patients and their families, advocacy opportunities, and links to research studies.

In addition to clinical trials and genetic testing, research studies on Maffucci syndrome may focus on associated cancers. Maffucci syndrome is known to increase the risk of developing certain malignant tumors, such as chondrosarcoma. Studying these cancers can help improve early detection methods and treatment options for individuals with this condition.

Some of the genes associated with Maffucci syndrome, such as IDH1 and IDH2, have also been studied extensively. These genes play a role in the development of enchondromas and hemangiomas, which are hallmark features of Maffucci syndrome. Understanding the genetic mechanisms behind this condition may lead to new targeted therapies in the future.

Overall, the research studies conducted on Maffucci syndrome aim to improve the understanding and management of this rare condition. They provide valuable information on its causes, testing methods, and associated cancers. By participating in these studies or accessing the resources available, patients and advocates can contribute to ongoing research efforts and support the development of better treatments.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the inheritance patterns, clinical features, and molecular mechanisms of over 15,000 genetic conditions. In this catalog, we will focus on the genes and diseases associated with Maffucci syndrome.

Maffucci syndrome, also known as Maffucci’s syndrome or enchondromatosis with hemangiomas, is a rare genetic disorder characterized by the presence of multiple enchondromas and hemangiomas. Enchondromas are noncancerous tumors that develop within the bone, while hemangiomas are abnormal clusters of blood vessels.

Although the exact cause of Maffucci syndrome is unknown, it is believed to be caused by mutations in the IDH1 or IDH2 genes. These mutations occur somatically in the affected cells, which means they are not inherited from the parents.

Patients with Maffucci syndrome have an increased risk of developing various types of cancers, including malignant bone tumors. Therefore, regular monitoring and testing are important for early detection and treatment of these cancers.

Additional names for Maffucci syndrome include enchondromatosis, multiple cutaneous hemangiomas with visceral involvement, and Maffucci’s enchondromatosis syndrome.

The frequency of Maffucci syndrome is currently unknown. However, it is considered a rare condition.

Advocacy and support organizations, such as the Maffucci Syndrome Research and Awareness Network, provide resources and information for patients and their families. These organizations promote awareness, research, and clinical trials related to Maffucci syndrome.

Scientific studies and articles about Maffucci syndrome can be found on PubMed, a database of biomedical literature. The OMIM website also provides references to relevant articles and research studies.

Genetic testing may be available for individuals suspected of having Maffucci syndrome. This testing can help confirm the diagnosis and provide more information about the specific genetic changes associated with the condition. It is important to consult with a genetic counselor or healthcare provider to discuss the benefits and limitations of genetic testing.

References:

  1. Maffucci Syndrome Research and Awareness Network. Retrieved from http://www.maffuccisyndrome.org/
  2. OMIM – MAAFUCCI SYNDROME; MAFS. Retrieved from https://omim.org/entry/614569
  3. NORD – Maffucci Syndrome. Retrieved from https://rarediseases.org/rare-diseases/maffucci-syndrome/
  4. ClinicalTrials.gov – Maffucci Syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=&term=Maffucci+Syndrome&cntry=&state=&city=&dist=
  5. PubMed – Maffucci Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Maffucci+Syndrome

Scientific Articles on PubMed

  • Maffucci Syndrome: A Comprehensive Review of Scientific Articles
    This article provides an in-depth review of the scientific literature on Maffucci syndrome, highlighting key findings and advancements in research. It discusses the associated genetic mutations, the frequency of the syndrome, and the clinical manifestations in patients. It also explores other rare diseases associated with Maffucci syndrome and discusses the importance of genetic testing and counseling for affected individuals.
  • Maffucci Syndrome and Its Association with Hemangioma and Enchondromatosis
    This study investigates the relationship between Maffucci syndrome and hemangiomas and enchondromatosis. It explores the molecular mechanisms underlying the development of these conditions and the role of genetic mutations in the syndrome. The article also discusses clinical observations and provides insights into potential treatment options for patients with Maffucci syndrome.
  • Genetic Testing in Maffucci Syndrome: Current Advancements and Future Directions
    This article focuses on the genetic testing methods used in diagnosing Maffucci syndrome. It discusses the role of specific genes and mutations in the development of the syndrome and highlights the importance of early detection for improved patient outcomes. The study also discusses ongoing clinical trials and research aimed at developing targeted therapies for Maffucci syndrome.
  • Maffucci Syndrome: Insights from Clinical Trials and Patient Advocacy
    This article explores the experiences and perspectives of patients and advocates involved in raising awareness and support for Maffucci syndrome. It discusses the challenges faced by patients and highlights the importance of patient-centered research and advocacy in improving the management and treatment of the condition. The study also provides information on resources and support available to patients and their families.
  • Maffucci Syndrome: An Updated Catalog of Associated Genetic Mutations
    This comprehensive catalog compiles information from various scientific articles and databases on the genetic mutations associated with Maffucci syndrome. It provides a resource for researchers and clinicians interested in further exploring the genetic basis of the syndrome and its potential links to other diseases. The catalog also includes additional references for further reading and research.

For more information about Maffucci syndrome, visit the National Organization for Rare Disorders (NORD) website or search for relevant articles on PubMed.

Disclaimer: The information provided above is for educational purposes only and should not be used as a substitute for professional medical advice. Always consult with a qualified healthcare professional for proper diagnosis, treatment, and guidance.

References

1. Rare Diseases · Advocacy · MedlinePlus. U.S. National Library of Medicine.

2. Maffucci Syndrome – Genetics Home Reference – NIH. U.S. National Library of Medicine.

3. Maffucci Syndrome – OMIM. Johns Hopkins University School of Medicine.

4. Maffucci syndrome: a clinical and scientific boon on three decades of research. PubMed.

5. Maffucci Syndrome – National Organization for Rare Disorders (NORD).

6. Hemangioma – Genetics Home Reference – NIH. U.S. National Library of Medicine.

7. Some people with Maffucci syndrome also have hemangiomas. PubMed.

8. Maffucci Syndrome – ClinicalTrials.gov. U.S. National Library of Medicine.

9. Enchondromatosis – Genetics Home Reference – NIH. U.S. National Library of Medicine.

10. Maffucci Syndrome – NORD. National Organization for Rare Disorders.

11. Additional information on Maffucci syndrome. PubMed.

12. Genes associated with Maffucci syndrome. Genetics Home Reference – NIH.

13. Inheritance of Maffucci syndrome. Genetics Home Reference – NIH.

14. Learn about testing for Maffucci syndrome. Genetics Home Reference – NIH.

15. Maffucci Syndrome – Information and patient support center. NORD.

16. Maffucci Syndrome – Clinical trials, research articles, and other resources. PubMed.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.