Orpha Number: 3201
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 mandible |
Abnormality of the lower jaw bone
|
0000277 |
| Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ]
|
0004408 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| 30%-79% of people have these symptoms | ||
| Aplasia/Hypoplasia of the distal phalanges of the toes |
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe
[ more ]
|
0010185 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Submucous cleft hard palate | 0000176 | |
| 5%-29% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Glossoptosis |
Retraction of the tongue
|
0000162 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Pierre-Robin sequence | 0000201 | |
| Posteriorly placed tongue | 0009087 | |
| Syncope |
Fainting spell
|
0001279 |
| Tachycardia |
Fast heart rate
Heart racing
Racing heart
[ more ]
|
0001649 |
| Ventricular extrasystoles |
Extra heart beat
|
0006682 |
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
