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 | ||
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormality of |
0002916 | |
| Abnormality of the antihelix | 0009738 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| 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 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Macrotia |
Large ears
|
0000400 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Short neck |
Decreased length of neck
|
0000470 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Smooth philtrum | 0000319 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 30%-79% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 0002650 | ||
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Hypospadias | 0000047 | |
| Preaxial hand |
Extra thumb
|
0001177 |
| Radial club hand | 0004059 | |
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.
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