Orpha Number: 1657
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 | ||
| Abnormal diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ]
|
0000940 |
| Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ]
|
0001155 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
| Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
| Arthralgia |
Joint pain
|
0002829 |
|
Short fingers or toes
|
0001156 | |
| Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
| Dystrophic toenail |
Poor toenail formation
|
0001810 |
| Fever | 0001945 | |
| Keratitis |
Corneal inflammation
|
0000491 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Osteoarthritis |
Degenerative joint disease
|
0002758 |
| Osteolysis |
Breakdown of bone
|
0002797 |
| 0002650 | ||
| Skin ulcer |
Open skin sore
|
0200042 |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| Percent of people who have these symptoms is not available through HPO | ||
| Ankle swelling | 0001785 | |
| 0000007 | ||
| Blindness | 0000618 | |
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Joint contracture of the hand | 0009473 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
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.
