Other Names for this Disease
- ED syndrome
- Ehlers Danlos syndrome
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connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.Ehlers-Danlos syndrome (EDS) is a group of inherited
Last updated: 3/20/2016
- Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. August, 2015; http://emedicine.medscape.com/article/943567-overview.
- Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. February 22, 2016; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.
- Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. Jan 2015; 100(1):57-61.
- Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
- The Mayo Clinic Web site provides further information on Ehlers-Danlos syndrome.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manual provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Genetics of Ehlers-Danlos Syndrome
- The Merck Manual for health care professionals provides information on Ehlers-Danlos syndrome.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.