Orpha Number: 3033
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 | ||
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Proximal tubulopathy | 0000114 | |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Renotubular dysgenesis | 0008660 | |
| 5%-29% of people have these symptoms | ||
| Bilateral single transverse palmar creases | 0007598 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Nephropathy | 0000112 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Tetralogy of Fallot | 0001636 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ]
|
0000079 |
| Anuria |
Absent urine output
|
0100519 |
| 0000007 | ||
| Hypotension |
Low blood pressure
|
0002615 |
| Potter facies | 0002009 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Widely patent fontanelles and sutures | 0004492 | |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
