Orpha Number: 2570
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 | ||
| Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
|
0006703 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Holoprosencephaly | 0001360 | |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Multiple joint |
0002828 | |
| 30%-79% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Enlarged thorax |
Wide rib cage
|
0100625 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Short neck |
Decreased length of neck
|
0000470 |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| 5%-29% of people have these symptoms | ||
| Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 |
| Abnormal pleura morphology | 0002103 | |
| Abnormality of the diencephalon | 0010662 | |
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Aplasia/Hypoplasia of the |
0007370 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Hydranencephaly | 0002324 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Percent of people who have these symptoms is not available through HPO | ||
| Fetal akinesia sequence | 0001989 | |
| 0001417 | ||
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
