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 | ||
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Advanced ossification of carpal bones | 0004233 | |
| 0000007 | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Broad long bones |
Wide long bones
Widened long bones
[ more ]
|
0005622 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
|
Cleft roof of mouth
|
0000175 | |
| Encephalocele | 0002084 | |
| Equinovarus deformity | 0008110 | |
| Flat face |
Flat facial shape
|
0012368 |
| 0000501 | ||
| Hirsutism |
Excessive hairiness
|
0001007 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Joint |
0009473 | |
| Lens luxation |
Dislocated lens
|
0012019 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Narrow greater sciatic notch | 0003375 | |
| Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short ribs | 0000773 | |
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.
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.
