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 epiphysis morphology | 90% |
| Abnormality of the palate | 90% |
| Abnormality of the pinna | 90% |
| Cellular immunodeficiency | 90% |
| Cognitive impairment | 90% |
| Decreased antibody level in blood | 90% |
| Eczema | 90% |
| Limitation of joint mobility | 90% |
| Lipoatrophy | 90% |
| Microcephaly | 90% |
| Patellar aplasia | 90% |
| Prominent nasal bridge | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Sloping forehead | 90% |
| Abnormality of retinal pigmentation | 50% |
| Abnormality of the hip bone | 50% |
| Convex nasal ridge | 50% |
| Craniosynostosis | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Aplasia/Hypoplasia of the eyebrow | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Cryptorchidism | 7.5% |
| Hypertelorism | 7.5% |
| Ulnar deviation of finger | 7.5% |
| Upslanted palpebral fissure | 7.5% |
| Autosomal recessive inheritance | - |
| Flexion contracture | - |
| Hypogonadism | - |
| Macrotia | - |
| Patellar hypoplasia | - |
| Protruding ear | - |
| Recurrent infections | - |
| Transient hypogammaglobulinemia of infancy | - |
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
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