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 hair quantity||90%|
|Abnormal hair whorl||90%|
|Abnormality of the thorax||90%|
|Convex nasal ridge||90%|
|Prematurely aged appearance||90%|
|Abnormality of retinal pigmentation||50%|
|Abnormality of the pulmonary artery||50%|
|Abnormality of the testis||50%|
|Abnormality of the voice||50%|
|Aplasia/Hypoplasia of the skin||50%|
|Congestive heart failure||50%|
|Coronary artery disease||50%|
|Increased bone mineral density||50%|
|Lack of skin elasticity||50%|
|Reduced bone mineral density||50%|
|Rocker bottom foot||50%|
|Skeletal muscle atrophy||50%|
|Telangiectasia of the skin||50%|
|Abnormality of the cerebral vasculature||7.5%|
|Limitation of joint mobility||7.5%|
|Neoplasm of the breast||7.5%|
|Neoplasm of the lung||7.5%|
|Neoplasm of the oral cavity||7.5%|
|Neoplasm of the skin||7.5%|
|Neoplasm of the small intestine||7.5%|
|Neoplasm of the thyroid gland||7.5%|
|Abnormality of the hair||-|
|Autosomal recessive inheritance||-|
|Progeroid facial appearance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
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.
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.