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 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
| 30%-79% of people have these symptoms | ||
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Long philtrum | 0000343 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| 5%-29% of people have these symptoms | ||
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Patellar dislocation |
Dislocated kneecap
|
0002999 |
| Short palm | 0004279 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Bifid nasal tip |
Cleft nasal tip
|
0000456 |
| Dislocated radial head | 0003083 | |
| Hypoplastic distal humeri | 0005025 | |
| Hypospadias | 0000047 | |
| Limited elbow flexion/extension | 0005060 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Rhizomelic arm shortening | 0004991 | |
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.
