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 humerus||0003063|
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
|Failure to thrive||
Weight faltering[ more ]
|30%-79% of people have these symptoms|
|Abnormality of femur morphology||
Abnormality of the thighbone
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
Death of bone due to decreased blood supply
|Cranial nerve paralysis||0006824|
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Smaller or shorter than typical limbs
Bowing of outer large bone of the forearm
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Abnormal pericardium morphology||0001697|
|Abnormal pyramidal sign||0007256|
Wider than typical opening or gap
Dislocations of the elbows
Elbow dislocations[ more ]
Paralysis or weakness of one side of body
Degenerative joint disease
Breakdown of bone
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Abnormal curving of the spine
|Synostosis of joints||
Fusion of joints
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease (see these terms).
Visit the Orphanet disease page for more information.
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.
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. Submit a new question
Is there information available about the risk of cancer in people with hereditary multiple exostosis? I would like to know what testing etc is required if this is suspected. See answer