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 |
|---|---|---|
| 1%-4% of people have these symptoms | ||
| Acute lymphoblastic leukemia | 0006721 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad 2nd toe |
Wide 2nd toe
|
0100040 |
| Broad-based gait |
Wide based walk
|
0002136 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
|
Cleft roof of mouth
|
0000175 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| 0009185 | ||
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Duplicated collecting system | 0000081 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Frontal bossing | 0002007 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hydronephrosis | 0000126 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplastic nipples |
Small nipples
|
0002557 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint contracture of the hand | 0009473 | |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Large hands |
large hand
|
0001176 |
| Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
| Low-set nipples | 0002562 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
| Peripheral pulmonary artery stenosis |
Narrowing of peripheral lung artery
|
0004969 |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Retinal coloboma |
Hole in the back of the eye
|
0000480 |
| 0001250 | ||
| Short philtrum | 0000322 | |
| Sparse hair | 0008070 | |
| Tetralogy of Fallot | 0001636 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Transposition of the great arteries | 0001669 | |
| Ureteropelvic junction obstruction | 0000074 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Violent behavior | 0008760 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 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 |
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
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.
