Orpha Number: 1597
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 cardiac septum morphology | 0001671 | |
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Abnormality of the philtrum | 0000288 | |
| Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
| Aplasia/Hypoplasia of the uvula | 0010293 | |
| Bilateral single transverse palmar creases | 0007598 | |
| Deviation of finger |
Atypical position of finger
|
0004097 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Melanocytic nevus |
Beauty mark
|
0000995 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Narrow mouth |
Small mouth
|
0000160 |
| Optic atrophy | 0000648 | |
| Patent ductus arteriosus | 0001643 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Prominent metopic ridge | 0005487 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| Small hand |
Disproportionately small hands
|
0200055 |
| Upper limb asymmetry | 0100560 | |
| 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.
National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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