This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Preauricular skin tag||0000384|
|30%-79% of people have these symptoms|
|Abnormal localization of kidney||
Abnormal localisation of kidneys
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of the ribs||
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Widely spaced eyes
|Intellectual disability, mild||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
|Intrauterine growth retardation||0001511|
|5%-29% of people have these symptoms|
|Abnormality of the genital system||
Abnormally small eyeball
|Percent of people who have these symptoms is not available through HPO|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart
Low set ears
|Stenosis of the external auditory canal||0000402|
|Total anomalous pulmonary venous return||0005160|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, 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.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
How many people have cat eye syndrome? What is the prognosis, and is there a way to prevent it, such as a vaccine? See answer
What causes cat eye syndrome? See answer
Do children with Cat Eye Syndrome generally experience a decline in physical abilities as they reach adulthood? Is there any shortening of the lifespan associated with this condition? See answer