Orpha Number: 2249
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 | ||
Absent fingernail | 0001817 | |
Absent toenail | 0001802 | |
Delayed cranial suture closure | 0000270 | |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Global |
0001263 | |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Muscular |
Low or weak muscle tone
|
0001252 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Specific learning disability | 0001328 | |
Talipes | 0001883 | |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
30%-79% of people have these symptoms | ||
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ]
|
0010059 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bilateral ulnar hypoplasia | 0005648 | |
Intellectual disability, profound |
IQ less than 20
|
0002187 |
Limitation of knee mobility |
Limited knee movement
|
0010501 |
Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
|
0002996 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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.
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