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 chromosome stability||90%|
|Delayed skeletal maturation||90%|
|Hypoplasia of the zygomatic bone||90%|
|Intrauterine growth retardation||90%|
|Recurrent respiratory infections||90%|
|Telangiectasia of the skin||50%|
|Abnormality of the pinna||7.5%|
|Hypopigmented skin patches||7.5%|
|Intellectual disability, mild||7.5%|
|Neoplasm of the gastrointestinal tract||7.5%|
|Neoplasm of the skin||7.5%|
|Reduced number of teeth||7.5%|
|Autosomal recessive inheritance||-|
|Chronic lung disease||-|
|Clinodactyly of the 5th finger||-|
|Decreased fertility in females||-|
|Facial telangiectasia in butterfly midface distribution||-|
|High pitched voice||-|
|Postnatal growth retardation||-|
|Specific learning disability||-|
|Squamous cell carcinoma||-|
|Type II diabetes mellitus||-|
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.
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. Submit a new question
I have Bloom syndrome and am wondering if I'm able to become pregnant. See answer
Can Bloom syndrome be detected before symptoms appear? See answer
My nephew and niece, ages 4 and 1, have been diagnosed with Bloom syndrome very recently. We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment or gene therapy which can be offered now or in the near future. Any help or leads would be highly appreciated. See answer