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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
| Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| 0000007 | ||
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Flat occiput | 0005469 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hepatic failure |
Liver failure
|
0001399 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hydronephrosis | 0000126 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypertrichosis | 0000998 | |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
| Inguinal hernia | 0000023 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Pancreatic lymphangiectasis | 0006273 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| 0002243 | ||
| Pulmonary lymphangiectasia | 0006521 | |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ]
|
0005989 |
| Short neck |
Decreased length of neck
|
0000470 |
| Smooth philtrum | 0000319 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Thyroid lymphangiectasia | 0008229 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Ventriculomegaly | 0002119 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
