Skip Navigation
Text Size: A  A  A
Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Schmid-Fraccaro syndrome
  • CES
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
Home > Rare Diseases and Related Terms > Cat Eye syndrome



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]


References
  1. Cat Eye Syndrome. OMIM. 2009 Available at: http://www.ncbi.nlm.nih.gov/omim/115470. Accessed February 27, 2010.
click to take you to contact us form

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.
For more information about Cat Eye syndrome click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 
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
 
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.

Department of Health & Human Services National Institutes of Health USA.gov - government made easy