Orpha Number: 2378
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 metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
Finger |
0006101 | |
Mirror image |
0010689 | |
Preaxial foot polydactyly | 0001841 | |
Preaxial hand polydactyly |
Extra thumb
|
0001177 |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
30%-79% of people have these symptoms | ||
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Absent tibia |
Absent shankbone
Absent shinbone
[ more ]
|
0009556 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Fibular |
Duplicated calf bone
|
0010503 |
Limb duplication | 0100524 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Short columella | 0002000 | |
Talipes | 0001883 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
5%-29% of people have these symptoms | ||
Aplasia/Hypoplasia of the |
0007370 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the face |
Abnormal face
Facial abnormality
[ more ]
|
0000271 |
0000006 | ||
Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
Hand polydactyly |
Extra finger
|
0001161 |
Patellar aplasia |
Absent kneecap
|
0006443 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Syndactyly |
Webbed fingers or toes
|
0001159 |
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.
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.
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