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|
Thickening of palms and soles
Decreased body height
Small stature[ more ]
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the calf musculature||
Abnormal calf muscles
|Abnormality of the hypothenar eminence||0010486|
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 ]
|Motor axonal neuropathy||0007002|
Low or weak muscle tone
|Sensorineural hearing impairment||0000407|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal autonomic nervous system physiology||0012332|
|Abnormality of visual evoked potentials||0000649|
|Adrenocorticotropin receptor defect||0008259|
Asymmetric pupil sizes
Asymmetry of the pupils
Unequal pupil size[ more ]
Symptoms begin in childhood
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating cortisol level||
Low blood cortisol level
Difficulty articulating speech
|Global developmental delay||0001263|
|Hyperpigmentation of the skin||
Patchy darkened skin
Mental retardation, nonspecific
Mental-retardation[ more ]
Decrease in blood pressure upon standing up
Thickening of the outer layer of the skin of the palms and soles
Worsens with time
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Given that the presence of 2 among the 3 main clinical signs (achalasia, alacrima or adrenal insufficiency) is pathognomonic, differential diagnosis can be considered when only one clinical sign is observed, for example at the onset of the disease. Differential diagnosis thus includes other causes of adrenal insufficiency, achalasia or alacrima such as frequent forms of congenital adrenal hyperplasia (easily excluded with dosage of adrenal hormones precursors), and rare peripheral forms of congenital adrenal insufficiency or adrenoleukodystrophy, which might be associated with neurological features.
Visit the Orphanet disease page for more information.
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.
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.
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?