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 metaphysis||
Abnormality of the wide portion of a long bone
Short limbs[ more ]
Moderate short stature
|30%-79% of people have these symptoms|
|Abnormality of bone mineral density||0004348|
Hearing defect[ more ]
High blood calcium levels
Increased calcium in blood[ more ]
|5%-29% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Irregular acetabular roof||0008833|
|Irregular vertebral endplates||0003301|
|Percent of people who have these symptoms is not available through HPO|
|Broad middle phalanx of finger||
Broad middle finger bones
|Distal tibial bowing||0006414|
|Enlargement of the proximal femoral epiphysis||
Enlarged end part of innermost thighbone
|Metaphyseal cupping of metacarpals||
Cupping of wide portion of long bone of hand
|Metaphyseal cupping of proximal phalanges||0006208|
|Mild short stature||0003502|
|Proximal femoral metaphyseal abnormality||
Abnormal wide portion of innermost thighbone
|Short distal phalanx of finger||
Short outermost finger bone
|Short middle phalanx of finger||
Short middle bone of finger
Waddling walk[ more ]
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.
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.