Orpha Number: 93316
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 wrist||
Abnormalities of the wrists
Nearsightedness[ more ]
|Short long bone||
Long bone shortening
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
Recurrent joint dislocations[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Anterior rib cupping||0000907|
Bowed long bone in upper arm
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
|Flared femoral metaphysis||0002834|
|Hypoplasia of proximal radius||0006434|
|Severe short stature||
Short stature, severe[ more ]
|Short sacroiliac notch||0003185|
|Short tubular bones of the hand||0001248|
|Tibial metaphyseal irregularity||0030292|
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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.