Pentalogy of Cantrell

Genetic and Rare Diseases Information Center (GARD)

Cantrell pentalogy
Cantrell Haller Ravitsch syndrome
Cantrell syndrome
Cantrell deformity

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Pentalogy of Cantrell
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Pentalogy of Cantrell is a condition in which a person typically has two or three of the following birth defects, with very few people having all five findings: (1) a deficiency of the front part of the diaphragm (the thin layer of muscle underneath the lungs involved in breathing); (2) a defect of the middle part of the abdomen above the belly button; (3) a defect in the pericardium (the outer layer) of the diaphragm; (4) various congenital (present at birth) heart abnormalities; and (5) a defect of the lower part of the sternum (breastbone). The condition is believed to be caused by a failure in development that occurs when the fetus is about 14-18 days old. Treatment is based on the symptoms present in the person.^[1]

References

van Hoorn JHL, Moonen RMJ, Huysentruyt CJR, van Heurn LWE, Offermans JPM, Twan Mulder ALM. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

I am a layperson and many articles I have seen are geared toward those with medical backgrounds. Has it been determined that pentalogy of Cantrell is genetic? Is it X-linked? Does this mean that male children are at risk? And how does this impact future siblings? ( Click here for answer)

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For more information about Pentalogy of Cantrell click on the boxes below:

More Detailed Information	Organizations	Services	Scientific Conferences	Clinical Trials & Research

General \| Brochure/Printed Materials
More Detailed Information (Found 3 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. General The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pentalogy of Cantrell. Click on the link to go to OMIM and review these resources. PubMed is a searchable database of medical literature and lists journal articles that discuss Pentalogy of Cantrell. Click on the link to view a sample search on this topic. Brochure/Printed Materials The NORD Guide to Rare Diseases by the National Organization for Rare Disorders has a section on pentalogy of Cantrell. To view the information, click on the link.

General | Brochure/Printed Materials

More Detailed Information (Found 3 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

General
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pentalogy of Cantrell. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pentalogy of Cantrell. Click on the link to view a sample search on this topic.
Brochure/Printed Materials
- The NORD Guide to Rare Diseases by the National Organization for Rare Disorders has a section on pentalogy of Cantrell. To view the information, click on the link.

Disease-Specific Organizations \| Umbrella Organizations \| Social Networking Websites
Organizations (Found 8 resources) Groups providing a wide range of services, supportive resources, and information. Disease-Specific Organizations The Feingold Center for Children 52 Second Avenue, 1st Floor Suite 520 Waltham, MA 02451 Telephone: 781-466-9555 Fax: 781-487-2361 E-mail: info@thenbdc.org Web site: http://www.thefeingoldcenter.org/ Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104 Orlando, FL 32814 Telephone: 407-895-0802 E-mail: staff@birthdefects.org Web site: http://www.birthdefects.org/ Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites

Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information.

Disease-Specific Organizations
- The Feingold Center for Children
  52 Second Avenue, 1st Floor
  Suite 520
  Waltham, MA 02451
  Telephone: 781-466-9555
  Fax: 781-487-2361
  E-mail: info@thenbdc.org
  Web site: http://www.thefeingoldcenter.org/
- Birth Defect Research for Children, Inc.
  976 Lake Baldwin Lane, Suite 104
  Orlando, FL 32814
  Telephone: 407-895-0802
  E-mail: staff@birthdefects.org
  Web site: http://www.birthdefects.org/
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.


Services (Found 2 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. 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. 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.

Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

- 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.
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.

Upcoming Conferences \| Past Conferences
Scientific Conferences (Found 2 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Upcoming 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; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases Past Conferences 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.

Upcoming Conferences | Past Conferences

Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

Upcoming 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; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
Past Conferences
- 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. ClinicalTrials.gov lists trials that are studying or have studied Pentalogy of Cantrell. 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 Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials.

- ClinicalTrials.gov lists trials that are studying or have studied Pentalogy of Cantrell. 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 Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.