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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
| Ciliary dyskinesia | 0012265 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
| Dystrophic toenail |
Poor toenail formation
|
0001810 |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse scalp hair |
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| 30%-79% of people have these symptoms | ||
| Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
| Melanocytic nevus |
Beauty mark
|
0000995 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal respiratory motile cilium morphology | 0005938 | |
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| 0000007 | ||
| Hypohidrotic ectodermal dysplasia | 0007607 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Primary hypothyroidism | 0000832 | |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Urticaria |
Hives
|
0001025 |
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.
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
I have this condition and recently have been having symptoms that compare to hypothyroidism. With this condition is hypothyroidism seen very often? I would appreciate any information you could give me relating to hypohidrotic ectodermal dysplasia with hypothyroidism. See answer
