Orpha Number: 2409
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 | ||
| Abnormality of the abdominal |
0002012 | |
| Aplasia/Hypoplasia of the |
0007370 | |
|
Cleft roof of mouth
|
0000175 | |
| 0000776 | ||
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| 0001363 | ||
| Delayed eruption of primary teeth |
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
|
0000680 |
| Developmental |
0001087 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Severe global |
0011344 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the supraorbital ridges |
Abnormality of the brow of the face
|
0100538 |
| Atrioventricular canal defect | 0006695 | |
| Bilateral cryptorchidism | 0008689 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| Corneal opacity | 0007957 | |
| Craniofacial dysostosis | 0004439 | |
| Dermoid cyst | 0025247 | |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Generalized hypertrichosis | 0004554 | |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
| High forehead | 0000348 | |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| 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 |
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
| Megalocornea |
Enlarged cornea
|
0000485 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Midgut malrotation | 0005211 | |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Pyloric stenosis | 0002021 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short nasal bridge |
Decreased length of bridge of nose
Decreased length of nasal bridge
Short bridge of nose
[ more ]
|
0003194 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Single transverse palmar crease | 0000954 | |
| Small anterior fontanelle | 0000237 | |
| Talon cusp | 0011087 | |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| Widely patent coronal suture | 0005442 | |
| 1%-4% of people have these symptoms | ||
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
| 0000006 | ||
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Diaphragmatic eventration | 0009110 | |
| Glaucoma | 0000501 | |
| Global developmental delay | 0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Preauricular pit |
Pit in front of the ear
|
0004467 |
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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