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)|
|Abnormal blistering of the skin||90%|
|Abnormality of the nose||90%|
|Deeply set eye||90%|
|Prematurely aged appearance||90%|
|Sensorineural hearing impairment||90%|
|Abnormal hair quantity||50%|
|Abnormality of the foot||50%|
|Aplasia/Hypoplasia of the skin||50%|
|Atypical scarring of skin||50%|
|Cerebral cortical atrophy||50%|
|Decreased nerve conduction velocity||50%|
|Disproportionate tall stature||50%|
|Limitation of joint mobility||50%|
|Abnormality of pelvic girdle bone morphology||7.5%|
|Abnormality of retinal pigmentation||7.5%|
|Abnormality of the palate||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Delayed eruption of teeth||7.5%|
|Telangiectasia of the skin||7.5%|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
The prognosis for Cockayne syndrome varies by the disease type. There are three types of Cockayne syndrome:
Cockayne Syndrome Type 1 (type A) is marked by normal development until a child is 1 or 2 years old, at which point growth slows and developmental delays are noticed. Life expectancy for type 1 is approximately 10 to 20 years.Cockayne syndrome type 2 (type B), also known as cerebro-oculo-facio-skeletal (COFS) and Pena-Shokeir syndrome type II, has severe symptoms present at birth and normal brain development stops after birth. Average lifespan for children with type 2 is up to 7 years of age.
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.
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.
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 Srinivas301email@example.com
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
American Society for Microbiology (ASM) Conference on DNA Repair and Mutagenesis Saturday, May 30, 2009 -
Friday, June 5, 2009
Location: Fairmont Chateau Whistler, British Columbia, Canada
Description: The major goals of this conference were to disseminate novel, unpublished results; identify new technologies and clinical therapies; and foster new collaborations among participants. A hallmark of this conference is the exceptionally broad cross-section of participants in terms of research focus (basic, translational, and clinical), age (the large meeting venue draws many younger scientists, graduate students, and senior investigators; ASM committed $20,000 to subsidize graduate student travel), institutional affiliation (academia, government, private industry, and publishing), and geography. Numerous opportunities were provided for in-depth discussion during and after sessions and at meals, including the popular evening poster sessions to promote informal interactions among all participants.
Contact: Dr. Peggy Hsieh, NIDDK 301-496-0306
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question