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 calvarial morphology||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the palate||90%|
|Camptodactyly of finger||90%|
|Limitation of joint mobility||90%|
|Low posterior hairline||90%|
|Synostosis of carpal bones||90%|
|Vertebral segmentation defect||90%|
|Intrauterine growth retardation||50%|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Genetic Analysis of Limb Malformation Disorders
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
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