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%|
|Abnormal hair quantity||90%|
|Aplasia/Hypoplasia of the skin||90%|
|Hypopigmented skin patches||90%|
|Abnormality of the fingernails||50%|
|Abnormality of the genital system||50%|
|Abnormality of the hip bone||50%|
|Aplasia/Hypoplasia of the eyebrow||50%|
|Deeply set eye||50%|
|External ear malformation||50%|
|Limitation of joint mobility||50%|
|Opacification of the corneal stroma||50%|
|Abnormal immunoglobulin level||7.5%|
|Abnormality of neutrophils||7.5%|
|Abnormality of the adrenal glands||7.5%|
|Abnormality of the bronchi||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Abnormality of the sacrum||7.5%|
|Abnormality of the ulna||7.5%|
|Aplasia/Hypoplasia of the radius||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Decreased corneal thickness||7.5%|
|Nausea and vomiting||7.5%|
|Neoplasm of the skin||7.5%|
|Neoplasm of the stomach||7.5%|
|Premature graying of hair||7.5%|
|Reduced bone mineral density||7.5%|
|Reduced number of teeth||7.5%|
|Sensorineural hearing impairment||7.5%|
|Congenital hip dislocation||5%|
|Abnormality of the nail||-|
|Agenesis of permanent teeth||-|
|Anteriorly placed anus||-|
|Autosomal recessive inheritance||-|
|Basal cell carcinoma||-|
|Delayed eruption of teeth||-|
|Forearm reduction defects||-|
|Increased number of teeth||-|
|Juvenile zonular cataracts||-|
|Squamous cell carcinoma||-|
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.
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.
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
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