Orpha Number: 3003
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
| Abnormal intramembranous ossification | 0012790 | |
| Abnormality of mouth shape |
Anomaly of mouth shape
|
0011338 |
| Abnormality of the wing of the ilium | 0011867 | |
| Aplastic pubic bones |
Absent pubic bones
|
0008817 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Enlarged thorax |
Wide rib cage
|
0100625 |
| Horizontal ribs | 0000888 | |
| Hypoplastic ischia | 0003175 | |
| Increased head circumference | 0040194 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Muscular edema | 0100748 | |
| Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ]
|
0100540 |
| Poorly ossified vertebrae | 0100856 | |
| Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
| Short iliac bones |
Short pelvis bones
|
0100866 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short ribs | 0000773 | |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| Unossified sacrum | 0030290 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Increased bone mineral density |
Increased bone density
|
0011001 |
| Stillbirth |
Stillborn
|
0003826 |
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.
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