The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the metaphyses||90%|
|Abnormality of pelvic girdle bone morphology||50%|
|Abnormality of the ulna||50%|
|Abnormality of vertebral epiphysis morphology||50%|
|Limitation of joint mobility||50%|
|Absent styloid process of ulna||-|
|Autosomal dominant inheritance||-|
|Cone-shaped epiphyses of the phalanges of the hand||-|
|Flat acetabular roof||-|
|Flat capital femoral epiphysis||-|
|Hypoplasia of the ulna||-|
|Limited elbow extension||-|
|Sensorineural hearing impairment||-|
|Short distal phalanx of finger||-|
|Short distal phalanx of the 2nd finger||-|
|Short distal phalanx of the 3rd finger||-|
|Short distal phalanx of the 4th finger||-|
|Short distal phalanx of the 5th finger||-|
|Shortening of all middle phalanges of the fingers||-|
|Shortening of all proximal phalanges of the fingers||-|
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.
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.
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, firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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