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 form of the vertebral bodies||0003312|
|Childhood onset short-limb
Stubby toes[ more ]
|30%-79% of people have these symptoms|
|Abnormality of femur morphology||
Abnormality of the thighbone
Abnormal shape of pelvic girdle bone
|Abnormality of the elbow||
Abnormality of the elbows
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|5%-29% of people have these symptoms|
Mental retardation, nonspecific
Mental-retardation[ more ]
Increased size of skull
Large head circumference[ more ]
Degenerative joint disease
|Spinal canal stenosis||
Narrow spinal canal
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/hypoplasia of the extremities||
Absent/underdeveloped extremities[ more ]
Flared wide portion of long bone
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
|Short long bone||
Long bone shortening
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.
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
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
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
Are there any associated problems with mucosal tissue (frequent, severe nosebleeds) with this disorder. Would later closure of fontanelle (after 18 months) be associated with this syndrome? Are cognitive or speech-language symptoms associated with the syndrome? See answer
What is the treatment? Is there a way to improve the bone growth? See answer