Orpha Number: 3258
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 the metacarpal bones||
Abnormality of the long bone of hand
|Synostosis of carpal bones||
Fusion of wrist bones
|30%-79% of people have these symptoms|
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Widely spaced eyes[ more ]
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Fused forearm bones
Small thumbs[ more ]
Webbed toes[ more ]
|5%-29% of people have these symptoms|
|Abnormal form of the vertebral bodies||0003312|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the ribs||
Clouding of the lens of the eye
Cloudy lens[ more ]
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
|Crossed fused renal ectopia||0004736|
Eyelid turned out
Dislocations of the elbows
Elbow dislocations[ more ]
Hearing defect[ more ]
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Dislocation of hip[ more ]
Failure of development of between one and six teeth
Softening of voice box tissue
Smaller or shorter than typical limbs
Involuntary, rapid, rhythmic eye movements
Eyeballs bulging out
Protruding eyes[ more ]
Prominent ears[ more ]
Drooping upper eyelid
Absent/underdeveloped kidney[ more ]
Decreased length of nose
Shortened nose[ more ]
|Percent of people who have these symptoms is not available through HPO|
Little lower jaw
Small lower jaw[ more ]
Protruding forehead[ more ]
Missing kidney[ more ]
Underdeveloped kidneys[ more ]
Webbed fingers or toes
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.
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.