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 auditory evoked potentials||-|
|Abnormality of skin pigmentation||-|
|Abnormality of the pinna||-|
|Abnormality of visual evoked potentials||-|
|Atypical scarring of skin||-|
|Autosomal recessive inheritance||-|
|Basal ganglia calcification||-|
|Decreased nerve conduction velocity||-|
|Delayed eruption of primary teeth||-|
|Hypoplasia of teeth||-|
|Hypoplastic iliac wing||-|
|Increased cellular sensitivity to UV light||-|
|Intrauterine growth retardation||-|
|Ivory epiphyses of the phalanges of the hand||-|
|Limitation of joint mobility||-|
|Loss of facial adipose tissue||-|
|Normal pressure hydrocephalus||-|
|Opacification of the corneal stroma||-|
|Patchy demyelination of subcortical white matter||-|
|Progeroid facial appearance||-|
|Reduced subcutaneous adipose tissue||-|
|Retinal pigment epithelial mottling||-|
|Sensorineural hearing impairment||-|
|Severe postnatal growth retardation||-|
|Square pelvis bone||-|
|Thymic hormone decreased||-|
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.
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.