Orpha Number: 3082
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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of |
0010978 | |
| Abnormality of the antihelix | 0009738 | |
| Abnormality of the antitragus | 0009896 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Aplasia/Hypoplasia of fingers |
Absent/small fingers
Absent/underdeveloped fingers
[ more ]
|
0006265 |
| Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
| Aplasia/Hypoplasia of toe |
Absent/small toe
Absent/underdeveloped toe
[ more ]
|
0001991 |
| Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ]
|
0010059 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Frontal bossing | 0002007 | |
| Hernia of the abdominal wall | 0004299 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| 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 |
| Metatarsus valgus | 0010508 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Short neck |
Decreased length of neck
|
0000470 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ]
|
0002217 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Uncombable hair | 0030056 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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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