Orpha Number: 2721
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 |
|---|---|---|
| 1%-4% of people have these symptoms | ||
| Abnormality of primary teeth |
Abnormality of baby teeth
Abnormality of milk teeth
[ more ]
|
0006481 |
| Agenesis of permanent teeth |
Failure of development of permanent teeth
Missing teeth
[ more ]
|
0006349 |
| Dry skin | 0000958 | |
| Dystrophic toenail |
Poor toenail formation
|
0001810 |
| Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
| Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
| Plantar hyperkeratosis | 0007556 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse body hair | 0002231 | |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| 0000007 | ||
| Dry hair | 0011359 | |
| Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
| Epidermal acanthosis |
Thickening of upper layer of skin
|
0025092 |
| Erythema | 0010783 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Hypergranulosis | 0025114 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Keratosis pilaris | 0032152 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Orthokeratosis | 0040162 | |
| Palmoplantar hyperhidrosis |
Excessive sweating of palms and soles
|
0007410 |
| Smooth tongue |
Smooth surface of tongue
|
0010298 |
| Sparse hair | 0008070 | |
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.
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.
