Orpha Number: 2104
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 | ||
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Deep philtrum | 0002002 | |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Frontal bossing | 0002007 | |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Genu valgum |
Knock knees
|
0002857 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Tented upper lip vermilion | 0010804 | |
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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