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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Coxa valga | 0002673 | |
| Frontal bossing | 0002007 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| 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 |
| Inguinal hernia | 0000023 | |
| Kyphoscoliosis | 0002751 | |
| Laryngomalacia |
Softening of voice box tissue
|
0001601 |
| Long clavicles |
Long collarbone
|
0000890 |
| Long fingers | 0100807 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Omphalocele | 0001539 | |
| Patent ductus arteriosus | 0001643 | |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| 0001250 | ||
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thin ribs |
Slender ribs
|
0000883 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
| Long philtrum | 0000343 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Sporadic |
No previous family history
|
0003745 |
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.
