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|
|Abnormality of peripheral nerve conduction||0003134|
Lack of sweating
Sweating dysfunction[ more ]
|Aplasia of the sweat glands||
Absent sweat glands
Lack of sweat glands[ more ]
|Impaired temperature sensation||
Abnormality of temperature sensation
Loss of temperature sensation[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Recurrent Staphylococcus aureus infections||0002726|
Self mutilation[ more ]
|30%-79% of people have these symptoms|
|Abnormality of humoral immunity||0005368|
|Atypical scarring of skin||
Difficulty in walking
Inflammation of the fascia
More active than typical
|Painless fractures due to injury||0002661|
|Premature loss of teeth||
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss[ more ]
Increased body temperature, episodic
Intermittent fever[ more ]
|Specific learning disability||0001328|
|Trophic limb changes||0003091|
|5%-29% of people have these symptoms|
|Abnormal lumbar spine morphology||0100712|
|Abnormality of the ankles||0003028|
|Abnormality of the hip bone||
Abnormality of the hips
|Alveolar ridge overgrowth||
Overgrowth of gum ridge
Low number of red blood cells or hemoglobin
Death of bone due to decreased blood supply
Easy bruising[ more ]
|Decreased corneal reflex||0008000|
|Distal sensory impairment||
Decreased sensation in extremities
Swallowing difficulty[ more ]
Poor feeding[ more ]
Retarded growth[ more ]
|Orthostatic hypotension due to autonomic dysfunction||0004926|
|Recurrent aspiration pneumonia||0002100|
|Short attention span||
Poor attention span
Problem paying attention[ more ]
|1%-4% of people have these symptoms|
Sweating, increased[ more ]
Abnormally low body temperature
|Percent of people who have these symptoms is not available through HPO|
|Autoamputation of digits||0007460|
|Decreased number of small peripheral myelinated nerve fibers||0007249|
Onset in first year of life
Onset in infancy[ more ]
Atypical nail growth
Poor nail formation
|Opacification of the corneal stroma||0007759|
|Poor wound healing||0001058|
|Postural hypotension with compensatory tachycardia||0005307|
|Recurrent corneal erosions||
Recurrent breakdown of clear protective layer of eye
|Sparse scalp hair||
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair[ more ]
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
Differential diagnosis includes other hereditary sensory and autonomic neuropathies from which it is distinguished by absent or markedly decreased sweating.
Visit the Orphanet disease page for more information.
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.