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Ehlers-Danlos syndrome


Other Names for this Disease

  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Ehlers-Danlos syndrome?

What are the signs and symptoms of Ehlers-Danlos syndrome?

What causes Ehlers-Danlos syndrome?

How is Ehlers-Danlos syndrome inherited?

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. An unusually large range of joint movement (hypermobility) occurs with most forms, particularly the hypermobility type. Many people with EDS also have soft, velvety skin that is highly elastic and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. Some forms of EDS, notably the vascular type and kyphoscoliosis type, can involve serious and potentially life-threatening complications. EDS may be caused by mutations in any one of several genes; the inheritance pattern varies by type.[1]
Last updated: 3/2/2012

What are the signs and symptoms of Ehlers-Danlos syndrome?

There are six major types of Ehlers-Danlos syndrome (EDS) which are classified according to the signs and symptoms that are present.[2] Some individuals may be mildly affected, while others can have serious and potentially life-threatening complications.[3] Many of the findings associated with EDS are joint and skin related. Joint manifestations may include hypermobility and/or hyperextensibility (they move beyond the joint's normal range); loose or unstable joints which are prone to dislocations and/or subluxations (partial dislocations); joint pain; and early onset of osteoarthritis. Skin manifestations may include soft, "velvety" skin; skin hyperextensibility; fragile skin that tears or bruises easily; severe scarring; slow and poor wound healing; and development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas). Other signs and symptoms that can be associated with different types of EDS may include chronic, early onset, musculoskeletal pain (usually associated with the hypermobility type); arterial, intestinal, and/or uterine fragility or rupture (usually associated with the vascular type); scoliosis at birth and scleral fragility (associated with the kyphoscoliosis type); poor muscle tone (associated with the arthrochalasia type); mitral valve prolapse; and gum disease.[2]
Last updated: 3/5/2012

What causes Ehlers-Danlos syndrome?

Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes can cause Ehlers-Danlos syndrome, however in some cases the underlying genetic defect is not known.[3]

Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen.[3] Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs resulting in the features of the disorder.[3]

Last updated: 3/5/2012

How is Ehlers-Danlos syndrome inherited?

The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance.[3] Click here to learn more about autosomal dominant inheritance.

The dermatosparaxis and kyphoscoliosis types of Ehlers-Danlos syndrome, and some cases of the classic and hypermobility forms, are inherited in an autosomal recessive pattern.[3] Click here to learn more about autosomal recessive inhreitance.
Last updated: 3/5/2012

References
  1. Ehlers-Danlos syndrome. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 3/2/2012.
  2. What is EDS?. Ehlers-Danlos National Foundation. 2012; http://www.ednf.org/. Accessed 3/5/2012.
  3. Ehlers-Danlos syndrome. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome. Accessed 7/21/2008.


Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.