Cat Eye 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.)
Cat Eye syndrome is a rare condition with widely variable features including structural defects of the iris of the eye (coloboma), skin tags near the ear, narrowing or closure of the anus (atresia), defects of the heart or kidneys, and intellectual disability. It occurs when an individual inherits extra genetic material from chromosome 22, known as a marker chromosome, from a parent. The marker chromosome generally arises by chance in the parent, though inheritance from an affected parent directly to a child has been observed. The diagnosis of Cat Eye syndrome depends on finding a marker chromosome by genetic testing.[1]
For more information about
Cat Eye syndrome
click on the boxes below:
|
More Detailed Information (Found 5 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 Cat Eye syndrome. Click on the link to go to GHR and review the information.
-
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 Cat Eye 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 Cat Eye syndrome. Click on the link to view a sample search on this topic.
|
Organizations Providing General Support | Social Networking Websites
|
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer
-
-
Unique – Rare Chromosome Disorder Support Group
P.O. Box 2189 Caterham Surrey CR3 5GN United Kingdom Telephone: 440 1883 330766 E-mail: info@rarechromo.org Web site: http://www.rarechromo.org
-
Chromosome Disorder Outreach
PO Box 724 Boca Raton, FL 33429 Telephone: 561-395-4252 E-mail: info@chromodisorder.org Web site: http://www.chromodisorder.org
-
Organizations Providing General Support
-
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
-
March of Dimes
1275 Mamaroneck Avenue White Plains, NY 10605
-
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/
-
RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
|
|
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. 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.
-
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 4 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.
-
2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
-
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.
-
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion , May 28, 2009 - May 30, 2009
Location: Hilton Anatole, Dallas, TX Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
|
|
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials. Disclaimer
-
-
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.
|