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 coagulation||90%|
|Abnormality of the eyelashes||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the mitral valve||90%|
|Abnormality of the pleura||90%|
|Aplasia/Hypoplasia of the earlobes||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Low-set, posteriorly rotated ears||90%|
|Peripheral arteriovenous fistula||90%|
|Prematurely aged appearance||90%|
|Telangiectasia of the skin||50%|
|Thin vermilion border||50%|
|Abnormality of hair texture||7.5%|
|Abnormality of the intestine||7.5%|
|Abnormality of the palate||7.5%|
|Abnormality of the pulmonary artery||7.5%|
|Abnormality of the pupil||7.5%|
|Aplasia/Hypoplasia of the abdominal wall musculature||7.5%|
|Atypical scarring of skin||7.5%|
|Decreased corneal thickness||7.5%|
|Deeply set eye||7.5%|
|Dilatation of the ascending aorta||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Narrow nasal bridge||7.5%|
|Premature loss of primary teeth||7.5%|
|Abnormality of the urinary system||-|
|Alopecia of scalp||-|
|Autosomal dominant inheritance||-|
|Hypermobility of distal interphalangeal joints||-|
|Mitral valve prolapse||-|
|Osteolytic defects of the phalanges of the hand||-|
|Premature delivery because of cervical insufficiency or membrane fragility||-|
|Premature loss of teeth||-|
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.
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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What is Ehlers-Danlos syndrome vascular type? What are the symptoms and how is it treated? See answer