Orpha Number: 3434
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 | ||
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Median |
Central cleft upper lip
|
0000161 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Split foot |
Lobster-claw foot deformity
Split-foot
[ more ]
|
0001839 |
| 30%-79% of people have these symptoms | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Triphalangeal thumb |
Finger-like thumb
|
0001199 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 5%-29% of people have these symptoms | ||
| 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 | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Premature skin wrinkling | 0100678 | |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Widely-spaced maxillary central incisors |
Gap between upper front teeth
Wide gap between upper central incisors
Widely spaced upper incisors
[ more ]
|
0001566 |
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.
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