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 | ||
| Cleft upper lip |
Harelip
|
0000204 |
|
Duplication of big toe bone
Duplication of great toes
[ more ]
|
0010066 | |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
| Agenesis of |
0001274 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| 0000006 | ||
| 0000007 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Iris coloboma |
Cat eye
|
0000612 |
| Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ]
|
0000637 |
| Long philtrum | 0000343 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| 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 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Pachygyria | 0001302 | |
| Patent ductus arteriosus | 0001643 | |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
|
Drooping upper eyelid
|
0000508 | |
|
Seizure
|
0001250 | |
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| 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 |
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.
