Orpha Number: 2631
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 the hip bone |
Abnormality of the hips
|
0003272 |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Cleft roof of mouth
|
0000175 | |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Skin dimple | 0010781 | |
| 30%-79% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Abnormal metacarpal morphology |
Abnormal shape of long bones of hand
|
0005916 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Vertebral segmentation defect | 0003422 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bowing of the arm |
Bending of the arm
|
0006488 |
| Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ]
|
0002979 |
| Mesomelic arm shortening | 0005011 | |
| Mesomelic leg shortening | 0004987 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
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.
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