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)|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the vitreous humor||90%|
|Depressed nasal bridge||90%|
|Hypoplasia of the zygomatic bone||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of the mitral valve||50%|
|Cleft upper lip||50%|
|Depressed nasal ridge||50%|
|Disproportionate tall stature||50%|
|Recurrent respiratory infections||50%|
|Abnormality of dental enamel||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Advanced eruption of teeth||7.5%|
|Conductive hearing impairment||7.5%|
|Decreased body weight||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Reduced bone mineral density||7.5%|
|Reduced number of teeth||7.5%|
|Short hard palate||7.5%|
|Skeletal muscle atrophy||7.5%|
|Spinal canal stenosis||7.5%|
|Abnormality of the eye||-|
|Autosomal dominant inheritance||-|
|Beaking of vertebral bodies||-|
|Irregular femoral epiphysis||-|
|Mitral valve prolapse||-|
|obsolete Flat midface||-|
|Rhegmatogenous retinal detachment||-|
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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