This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Notched eyelid[ more ]
|5%-29% of people have these symptoms|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Flat head syndrome
Flattening of skull
Rhomboid shaped skull[ more ]
Drooping upper eyelid
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of extrapyramidal motor function||0002071|
Degeneration of cerebrum
|Chronic CSF lymphocytosis||0009704|
|Deep white matter hypodensities||0007321|
|Elevated hepatic transaminases||
High liver enzymes
|Feeding difficulties in infancy||0008872|
Enlarged liver and spleen
|Morphological abnormality of the pyramidal tract||0002062|
|Multiple gastric polyps||0004394|
Low muscle tone in trunk
|Poor head control||0002421|
Progressively abnormally small cranium
Progressively abnormally small skull[ more ]
Prolonged yellowing of skin in newborn
Squint eyes[ more ]
Low platelet count
National Center for Complementary and Alternative Medicine Clearinghouse (NCCAM)
P.O. Box 7923
Gaithersburg, MD 20898
Web site: http://nccam.nih.gov
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
RNase H 2010
Monday, September 20, 2010 -
Wednesday, September 22, 2010
Location: McGill University, Montreal, Quebec, Canada
Description: Scientists interested in making as much information available for addressing the causes and possible remedies of AGS by describing how the RNase H2 works, particularly how defects in activity and/or stability can be addressed, were brought together at this meeting.
Contact: Robert J. Crouch, Head SFR, LMG, PDG, NICHD, firstname.lastname@example.org email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
The following diseases are related to Aicardi-Goutieres syndrome. If you have a question about any of these diseases, you can contact GARD.
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
Have there been any documented beneficial results with manual treatments, such as integrated neuromuscular re-education, for Aicardi-Goutieres syndrome? See answer