Orpha Number: 2639
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||
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the hip bone||
Abnormality of the hips
|Abnormality of the radius||0002818|
|Abnormality of the thumb||
Abnormality of the thumbs
Thumb deformity[ more ]
|Abnormality of the ulna||0002997|
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
|Aplasia/Hypoplasia of the fibula||
Absent/small calf bone
Absent/underdeveloped calf bone[ more ]
|Bilateral single transverse palmar creases||0007598|
Absent calf bone
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
|Narrow nasal bridge||
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin[ more ]
Decreased body height
Small stature[ more ]
|Synostosis of carpal bones||
Fusion of wrist bones
Fused ankle bones
|30%-79% of people have these symptoms|
|Deformed tarsal bones||
Deformed ankle bones
|Deviation of finger||0004097|
|Malaligned carpal bone||
Incorrect alignment of wrist bone
Shortened long bone of hand
Short long bone of foot
|Short phalanx of finger||
Short finger bones
|Percent of people who have these symptoms is not available through HPO|
Absent/underdeveloped toenails[ more ]
Short calf bone
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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