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 | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Aortic regurgitation | 0001659 | |
| 0000006 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cranial nerve paralysis | 0006824 | |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Delayed cranial suture closure | 0000270 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
| High forehead | 0000348 | |
| 0000822 | ||
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
| Joint |
0009473 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Long neck |
Elongated neck
Increased length of neck
[ more ]
|
0000472 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Meningioma | 0002858 | |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Mitral regurgitation | 0001653 | |
| Mitral valve prolapse | 0001634 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Patent ductus arteriosus | 0001643 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Premature osteoarthritis |
Premature arthritis
|
0003088 |
| Pseudoepiphyses | 0010584 | |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Umbilical hernia | 0001537 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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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