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 | ||
| Abnormality of nail color |
Abnormality of nail colour
|
0100643 |
| Alopecia |
Hair loss
|
0001596 |
| Fragile nails |
Brittle nails
|
0001808 |
| Generalized hyperpigmentation | 0007440 | |
| Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ]
|
0001795 |
| Irregular hyperpigmentation | 0007400 | |
| Onychogryposis |
Thick nail
Thickened nails
[ more ]
|
0001805 |
| Onycholysis |
Detachment of nail
|
0001806 |
| Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
| Sparse pubic hair |
Decreased sexual hair
|
0002225 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| 30%-79% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Skin ulcer |
Open skin sore
|
0200042 |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| 5%-29% of people have these symptoms | ||
| Abnormal nasolacrimal system morphology | 0000614 | |
| Clubbing of toes | 0100760 | |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Finger |
0006101 | |
| Hand |
Extra finger
|
0001161 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Absent axillary hair | 0002221 | |
| Absent pubic hair | 0002555 | |
| Alopecia totalis | 0007418 | |
| 0000006 | ||
| Blepharitis |
Inflammation of eyelids
|
0000498 |
| Brittle hair | 0002299 | |
| Conjunctivitis |
Pink eye
|
0000509 |
| Ectodermal dysplasia | 0000968 | |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
| Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ]
|
0002217 |
| Small nail |
Small nails
|
0001792 |
| 0003828 | ||
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
|
|---|
|
The differential diagnosis should include pachyonychia congenita and other forms of ectodermal dysplasia (see these terms).
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.
