Difference between revisions of "Ehlers-Danlos syndrome"
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*Hypermobile joints. | *Hypermobile joints. | ||
*Ruptures of intestinal, large arteries (e.g. [[aortic dissection]]), cornea. | *Ruptures of intestinal, large arteries (e.g. [[aortic dissection]]), cornea. | ||
*Poor wound healing. | *Poor [[wound healing]]. | ||
==Subtypes== | ==Subtypes== | ||
Revision as of 13:56, 5 May 2012
Ehlers-Danlos syndrome is a syndrome due to a genetic defect.
- Hyperextensible skin.
- Hypermobile joints.
- Ruptures of intestinal, large arteries (e.g. aortic dissection), cornea.
- Poor wound healing.
Subtypes
Classification:[2]
- There are six subtypes (classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis) - based molecular defects and clinical features.
- Two of six are autosomal recessive (kyphoscoliosis, dermatosparaxis); the others are autosomal dominant.
Incidence
- 1 in 5000.[1]
See also
References
- ↑ 1.0 1.1 Jarmulowicz M, Phillips WG (January 2001). "Vascular Ehlers-Danlos syndrome undiagnosed during life". J R Soc Med 94 (1): 28–30. PMC 1280067. PMID 11220066. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf.
- ↑ 2.0 2.1 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 89. ISBN 978-1416054542.