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 the hip bone||90%|
|Decreased nerve conduction velocity||50%|
|Nausea and vomiting||50%|
|Abnormal tendon morphology||7.5%|
|Abnormality of the menstrual cycle||7.5%|
|Abnormality of the palate||7.5%|
|Abnormality of the wrist||7.5%|
|Aplasia/Hypoplasia of the abdominal wall musculature||7.5%|
|Atypical scarring of skin||7.5%|
|Decreased corneal thickness||7.5%|
|Dilatation of the ascending aorta||7.5%|
|Limitation of joint mobility||7.5%|
|Autosomal dominant inheritance||-|
|Mitral valve prolapse||-|
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.
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.
GARD Information Navigator
May 10, 2016
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
How often is a diagnosis of Ehlers-Danlos incorrect? I am wondering because it's diagnosed only with signs and symptoms, not with a laboratory test. Are there specific alternate diagnoses that are most often implicated in cases of misdiagnosis? See answer
What causes Ehlers-Danlos syndrome hypermobility type? See answer
I was wondering if there were any underlying problems I should be concerned about associated with Ehlers-Danlos syndrome hypermobility type. See answer
My husband has Ehlers Danlos syndrome hypermobility type. He has severe syncope and very low blood pressure. What heart conditions are associated with Ehlers Danlos syndrome hypermobility type? Do people with Ehlers Danlos syndrome hypermobility type have a shortened life expectancy? See answer