Orpha Number: 1318
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 ribs |
Rib abnormalities
|
0000772 |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
|
Short fingers or toes
|
0001156 | |
|
Cleft roof of mouth
|
0000175 | |
| Clubbing of toes |
Clubbing of feet
|
0100760 |
| Cystic hygroma | 0000476 | |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Multicystic kidney dysplasia | 0000003 | |
| Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Pancreatic cysts | 0001737 | |
| Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
| Skeletal dysplasia | 0002652 | |
| 30%-79% of people have these symptoms | ||
| Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hydrops fetalis | 0001789 | |
| Myelodysplasia | 0002863 | |
| Skin dimples | 0010781 | |
| 5%-29% of people have these symptoms | ||
| Abnormal intestine morphology |
Abnormality of the intestine
|
0002242 |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ]
|
0008056 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Polycystic kidney dysplasia | 0000113 | |
| Polycystic liver disease | 0006557 | |
| Polysplenia |
Multiple small spleens
|
0001748 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
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.
