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) |
| Aplasia/Hypoplasia of the abdominal wall musculature | 90% |
| Cognitive impairment | 90% |
| Dental malocclusion | 90% |
| Kyphosis | 90% |
| Macrotia | 90% |
| Prominent supraorbital ridges | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Strabismus | 90% |
| Synophrys | 90% |
| Abnormality of the palate | 50% |
| Blepharophimosis | 50% |
| Cryptorchidism | 50% |
| Decreased body weight | 50% |
| Hypertelorism | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Mandibular prognathia | 50% |
| Pectus excavatum | 50% |
| Ptosis | 50% |
| Short philtrum | 50% |
| Single transverse palmar crease | 50% |
| Underdeveloped nasal alae | 50% |
| Abnormal facial shape | - |
| Aortic valve stenosis | - |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Clinodactyly | - |
| Diastasis recti | - |
| Hypoplastic toenails | - |
| Intellectual disability | - |
| Kyphoscoliosis | - |
| Pectus carinatum | - |
| Prominent nose | - |
| Pulmonic stenosis | - |
| Radial deviation of finger | - |
| Sparse hair | - |
| Upslanted palpebral fissure | - |
| Ventricular septal defect | - |
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.
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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