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 | ||
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormality of the radius | 0002818 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 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 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Frontal bossing | 0002007 | |
| Hypoplastic distal humeri | 0005025 | |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| 30%-79% of people have these symptoms | ||
| Abnormality of femur morphology |
Abnormality of the thighbone
|
0002823 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| 5%-29% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| 0001363 | ||
| Hernia | 0100790 | |
| Increased nuchal translucency | 0010880 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Pterygium | 0001059 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anterolateral radial head dislocation | 0005050 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000007 | ||
| Axillary pterygium | 0001060 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Fibular hypoplasia |
Short calf bone
|
0003038 |
| Flat face |
Flat facial shape
|
0012368 |
| Hemangioma |
Strawberry mark
|
0001028 |
| Increased fibular diameter |
Wide calf bone
|
0012107 |
| Limited elbow flexion/extension | 0005060 | |
| Limited hip movement | 0008800 | |
| Limited knee flexion/extension | 0005085 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Popliteal pterygium | 0009756 | |
| Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short tibia |
Short shinbone
Short skankbone
[ more ]
|
0005736 |
| Umbilical hernia | 0001537 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
