Orpha Number: 1790
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 | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Aplasia/Hypoplasia of the tongue | 0010295 | |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Maxillozygomatic hypoplasia | 0005439 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| 30%-79% of people have these symptoms | ||
| Bifid uvula | 0000193 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
| 0001363 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Laryngeal hypoplasia | 0008749 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Optic nerve coloboma | 0000588 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| 5%-29% of people have these symptoms | ||
| Abnormal morphology of female internal genitalia | 0000008 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Patent ductus arteriosus | 0001643 | |
| Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Percent of people who have these symptoms is not available through HPO | ||
| Aglossia |
Failure of development of tongue
|
0012730 |
| 0000007 | ||
| Coronal craniosynostosis | 0004440 | |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Pursed lips |
Tightly closed lips
|
0000205 |
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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