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|
Decreased body height
Small stature[ more ]
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Sensorineural hearing impairment||0000407|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of visual evoked potentials||0000649|
|Adrenocorticotropin receptor defect||0008259|
Asymmetric pupil sizes
Asymmetry of the pupils
Unequal pupil size[ more ]
|Decreased circulating aldosterone level||0004319|
|Decreased circulating cortisol level||0008163|
Difficulty articulating speech
|Global developmental delay||0001263|
|Hyperpigmentation of the skin||
Patchy darkened skin
Mental retardation, nonspecific
Mental-retardation[ more ]
|Motor axonal neuropathy||0007002|
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.
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.
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
International Adrenal Cortex Conference “Adrenal 2010”
Wednesday, June 16, 2010 -
Friday, June 18, 2010
Location: San Diego, California
Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.
Contact: Maria L. Dufau, M.D., Ph.D., email@example.com firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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
My 15 year old daughter was recently diagnosed with triple A syndrome. Is there anything that can be done about her abnormal sweating? We have tried various types of treatments and so far none have worked. See answer
I am trying to research current information for my friend who has been diagnosed with Triple A syndrome. She is looking for understandable information about the disease and possible treatment options. Is there recent information about what might help to treat neuropathy? How can we reach out to other people affected by the condition? How can we find out about current research that is being done to find better treatment alternatives? See answer
My son is 5 years old and has triple A syndrome. He has Addison's and alacrima, and we want to know if it is likely he will develop achalasia. What are the neurological effects of triple A syndrome and when could they affect him?