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 | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Flexion |
0005830 | |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Increased circulating IgE level | 0003212 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Obesity |
Having too much body fat
|
0001513 |
| 0000939 | ||
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
| 30%-79% of people have these symptoms | ||
| Abnormal diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ]
|
0000940 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
|
Short fingers or toes
|
0001156 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short neck |
Decreased length of neck
|
0000470 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the philtrum | 0000288 | |
| Abnormality of the ureter | 0000069 | |
| Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the genital system |
Genital abnormalities
Genital abnormality
Genital anomalies
Genital defects
[ more ]
|
0000078 |
| 0000007 | ||
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Enlarged epiphyses |
Large end part of bone
|
0010580 |
| Joint contracture of the hand | 0009473 | |
| Osteopenia | 0000938 | |
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.
