Orpha Number: 2319
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 | ||
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| 30%-79% of people have these symptoms | ||
| Abnormal vertebral morphology | 0003468 | |
| Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
| Hammertoe |
Hammer toe
Hammertoes
[ more ]
|
0001765 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypospadias | 0000047 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| 0002650 | ||
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| 5%-29% of people have these symptoms | ||
| Anteriorly placed anus | 0001545 | |
| Dandy-Walker malformation | 0001305 | |
|
Drooping upper eyelid
|
0000508 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of abdomen morphology | 0001438 | |
| Abnormality of the carpal bones | 0001191 | |
| Abnormality of the radial head | 0003995 | |
| Abnormality of toe |
Abnormalities of the toes
|
0001780 |
| Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
| 0000007 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Growth |
0000824 | |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
