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The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of chromosome segregation | 90% |
| Preauricular skin tag | 90% |
| Urogenital fistula | 90% |
| Abnormal localization of kidney | 50% |
| Abnormality of the hip bone | 50% |
| Abnormality of the ribs | 50% |
| Chorioretinal coloboma | 50% |
| Cognitive impairment | 50% |
| Hypertelorism | 50% |
| Intrauterine growth retardation | 50% |
| Iris coloboma | 50% |
| Muscular hypotonia | 50% |
| Renal hypoplasia/aplasia | 50% |
| Short stature | 50% |
| Abnormality of the genital system | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Hearing impairment | 7.5% |
| Abnormality of cardiovascular system morphology | - |
| Absent radius | - |
| Anal atresia | - |
| Autosomal dominant inheritance | - |
| Biliary atresia | - |
| Growth abnormality | - |
| Intellectual disability, mild | - |
| Intestinal malrotation | - |
| Low-set ears | - |
| Microphthalmia | - |
| Preauricular pit | - |
| Renal agenesis | - |
| Stenosis of the external auditory canal | - |
| Total anomalous pulmonary venous return | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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May 10, 2016
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
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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
