Meckel syndrome
ORDR lists rare diseases for information purposes only and does not guarantee that a condition is rare. Read more
The
links on this page may take you to sites outside of the NIH. (See Disclaimer for details.)
Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.[1][2]
For more information about
Meckel syndrome
click on the boxes below:
|
More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
-
General
-
Genetics Home Reference (GHR) contains information on Meckel syndrome. Click on the link to go to GHR and review the information.
-
Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
-
The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
-
The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Meckel syndrome. Click on the link to go to OMIM and review these resources.
-
Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
-
PubMed is a searchable database of medical literature and lists journal articles that discuss Meckel syndrome. Click on the link to view a sample search on this topic.
|
Testing | Genetic Services | Parent Resources
|
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
-
-
Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
-
Testing
-
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
-
Genetic Services
-
You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
-
Parent Resources
-
The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
|
|
Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
-
Past Conferences
-
RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
-
VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
|
|
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer
-
-
ClinicalTrials.gov lists trials that are studying or have studied Meckel syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
-
NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
-
Patient Registry
-
ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.
|