Difference between revisions of "Ehlers-Danlos syndrome"
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'''Ehlers-Danlos syndrome''' is a syndrome due to a genetic defect. | '''Ehlers-Danlos syndrome''' is a syndrome due to a genetic defect. | ||
Features:<ref name=pmid11220066>{{cite journal |author=Jarmulowicz M, Phillips WG |title=Vascular Ehlers-Danlos syndrome undiagnosed during life |journal=J R Soc Med |volume=94 |issue=1 |pages=28–30 |year=2001 |month=January |pmid=11220066 |pmc=1280067 |doi= |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf}}</ref> | Features:<ref name=pmid11220066>{{cite journal |author=Jarmulowicz M, Phillips WG |title=Vascular Ehlers-Danlos syndrome undiagnosed during life |journal=J R Soc Med |volume=94 |issue=1 |pages=28–30 |year=2001 |month=January |pmid=11220066 |pmc=1280067 |doi= |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf}}</ref><ref name=Ref_PCPBoD89>{{Ref PCPBoD8|89}}</ref> | ||
* | *Hyperextensible skin. | ||
* | *Hypermobile joints. | ||
* | *Ruptures of intestinal, large arteries (e.g. [[aortic dissection]]), cornea. | ||
* | *Poor [[wound healing]]. | ||
* | |||
==Subtypes== | |||
Classification:<ref name=Ref_PCPBoD89>{{Ref PCPBoD8|89}}</ref> | |||
*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== | ==Incidence== | ||
| Line 14: | Line 18: | ||
*[[Marfan syndrome]]. | *[[Marfan syndrome]]. | ||
*[[Vascular disease]]. | *[[Vascular disease]]. | ||
*[[Connective tissue disorders]]. | |||
==References== | ==References== | ||
{{reflist| | {{reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 20:04, 7 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.