Orpha Number: 2759
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 pharynx | 0000600 | |
| Abnormality of the philtrum | 0000288 | |
| Hemivertebrae | 0002937 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Missing ribs |
Absent ribs
Decreased rib number
[ more ]
|
0000921 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Respiratory failure | 0002878 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the antitragus | 0009896 | |
| Aplasia/Hypoplasia of the tongue | 0010295 | |
| Arachnodactyly |
Long slender fingers
Spider slender fingers
[ more ]
|
0001166 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Joint hyperflexibility | 0005692 | |
| Long palm | 0011302 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Polyhydramnios | 0001561 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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