Orpha Number: 1824
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 | ||
| Epiphyseal dysplasia | 0002656 | |
| Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Arthralgia |
Joint pain
|
0002829 |
| Coxa vara | 0002812 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of nail color |
Abnormality of nail colour
|
0100643 |
| Aplasia/Hypoplasia of the |
0007370 | |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
|
Short fingers or toes
|
0001156 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dislocated radial head | 0003083 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Patellar dislocation |
Dislocated kneecap
|
0002999 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
| Shallow acetabular fossae | 0003182 | |
| Small epiphyses |
Small end part of bone
|
0010585 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Squared iliac bones | 0003177 | |
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
