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 the eyelashes||90%|
|Abnormality of the teeth||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Convex nasal ridge||90%|
|Narrow nasal bridge||90%|
|Neurological speech impairment||90%|
|Prominent nasal bridge||90%|
|Reduced bone mineral density||90%|
|Abnormality of the nipple||50%|
|Abnormality of the pinna||50%|
|Delayed skeletal maturation||50%|
|Convex nasal ridge||2/2|
|Progressive spastic quadriplegia||2/2|
|Autosomal recessive inheritance||-|
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.
PRF 10th Anniversary Workshop on Progeria-“From Bench to Bedside in a Decade”
Sunday, April 11, 2010 -
Tuesday, April 13, 2010
Location: Seaport Hotel and World Trade Center, Boston, MA
Description: The goal of the 2010 Progeria Research Foundation (PRF) Workshop was to provide a platform to assemble clinicians and scientists, integrate their findings, and facilitate new directions within both clinical and basic science research. The main focus was to bring basic and clinical scientists together to promote collaboration and progress in progeria research. It is the only meeting of its kind and is essential for promoting a bench to bedside view of the field and productive discussion between basic and translational scientists regarding not only progeria but also aging and cardiovascular disease (CVD). Importantly, it provided a forum for examining simultaneously in vitro studies, mouse model studies, and as yet unpublished human treatment trial outcomes. Progeria research is at a pinnacle, with more peer-reviewed papers emerging than ever before, with three clinical trials in progress, and with a plethora of new data examining the links between Hutchinson-Gilford progeria syndrome (HGPS), aging, and CVD. The 2010 PRF workshop provided an exciting forum for sharing data and ideas about how to continue pushing toward a greater understanding of how these fields relate to one another.
Contact: Dr. Pothur Srinivas301firstname.lastname@example.org
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
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