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|
|Abnormal cortical bone morphology||0003103|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of T
|Abnormality of the carpal bones||0001191|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the tarsal bones||
Abnormal ankle bones
|Abnormality of the ulna||0002997|
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Stiff joints[ more ]
Nearsightedness[ more ]
|Rough bone trabeculation||0100670|
Round facial appearance
Round facial shape[ more ]
|Sensorineural hearing impairment||0000407|
Disproportionately small hands
|30%-79% of people have these symptoms|
|Abnormal form of the vertebral bodies||0003312|
Flat facial shape
|Flattened femoral head||
Flat head of thigh bone
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
Aplastic nails[ 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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location: New London, NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Multiple epiphyseal dysplasia. If you have a question about any of these diseases, you can contact GARD.
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
I have a 9 year old patient with this disorder who has hearing loss. Is hearing loss associated with this disorder? If so, is the hearing loss progressive? Is the loss sensorineural, conductive, or mixed? See answer
I have a friend who has been diagnosed with multiple epiphyseal dysplasia. There is no other incidence of the condition within his family however his mother was born with a cleft palate. He believes he has passed on his mutation to both of his children. Based on this information do you think that his mutation is a result of random mutation or could there be a link between his mothers cleft palate and his condition? Is this condition dominant? And if so, what is the likelihood he could pass it on to his next child? See answer