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 | ||
| Abnormal nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ]
|
0005105 |
| Abnormality of the antitragus | 0009896 | |
| Abnormality of the nares |
Abnormality of the nostrils
|
0005288 |
| Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
| Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
| Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| Asymmetric radial dysplasia | 0006420 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Deep philtrum | 0002002 | |
| Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ]
|
0100257 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| Long philtrum | 0000343 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Short 2nd metacarpal |
Shortened 2nd long bone of hand
|
0010038 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
| Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
| Upper limb phocomelia | 0009813 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
| Radial club hand | 0004059 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent radius |
Missing outer large bone of forearm
|
0003974 |
| Anterior vertebral fusion | 0004557 | |
| 0000006 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Fibular hypoplasia |
Short calf bone
|
0003038 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ]
|
0002970 |
| Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
| Long clavicles |
Long collarbone
|
0000890 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Mesomelic arm shortening | 0005011 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Phocomelia | 0009829 | |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Shoulder dislocation | 0003834 | |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
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.
