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 | ||
| Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ]
|
0010059 |
| Broad metatarsal |
Wide long bone of foot
|
0001783 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| 30%-79% of people have these symptoms | ||
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Frontal bossing | 0002007 | |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| 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 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
|
Drooping upper eyelid
|
0000508 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| 5%-29% of people have these symptoms | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Abnormality of fibula morphology |
Abnormality of the calf bone
|
0002991 |
| Preaxial foot |
0001841 | |
| Split foot |
Lobster-claw foot deformity
Split-foot
[ more ]
|
0001839 |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Broad hallux |
Broad big toe
Wide big toe
[ more ]
|
0010055 |
| Calcaneonavicular fusion | 0008122 | |
| 0001363 | ||
| Hallux varus | 0008080 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
