Anencephaly

Genetic and Rare Diseases Information Center (GARD)

Absence of a large part of the brain and the skull

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Anencephaly
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Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain.^[1] Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.^[2] Reflex actions such as breathing and responses to sound or touch may occur.^[1]

More about Anencephaly

References

NINDS Anencephaly Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2010 Available at: http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm. Accessed November 28, 2011.
Anencephaly. Orphanet. 2006 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1048. Accessed November 28, 2011.

Questions & Answers (Found 2 Questions)

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.

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For more information about Anencephaly click on the boxes below:

More Detailed Information	Organizations	Services	Scientific Conferences	Clinical Trials & Research


More Detailed Information (Found 10 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. General You can obtain comprehensive information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States. Click on the link to read information on this condition. Genetics Home Reference (GHR) contains information on Anencephaly. Click on the link to go to GHR and review the information. MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. 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 Anencephaly. 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 Anencephaly. Click on the link to view a sample search on this topic.

More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

General
- You can obtain comprehensive information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States. Click on the link to read information on this condition.
- Genetics Home Reference (GHR) contains information on Anencephaly. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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 Anencephaly. 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 Anencephaly. Click on the link to view a sample search on this topic.

Disease-Specific Organizations \| Umbrella Organizations \| Social Networking Websites
Organizations (Found 7 resources) Groups providing a wide range of services, supportive resources, and information. Disease-Specific Organizations 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 7 resources)
Groups providing a wide range of services, supportive resources, and information.

Disease-Specific Organizations
- 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.

Genetic Services \| Parent Resources
Services (Found 3 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. 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: GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics. The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. 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.

Genetic Services | Parent Resources

Services (Found 3 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.
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:
  - GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  - The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  - The American College of Medical Genetics has a searchable database of US genetics clinics.
  - The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
  - The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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 Anencephaly. 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 Anencephaly. 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.