Difference between revisions of "Ehlers-Danlos syndrome"

Ehlers-Danlos syndrome (view source)

408 bytes added , 15:32, 4 May 2011

more

48,938

edits

@@ Line 1: / Line 1: @@
 '''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>
-*Atrial rupture.
+*Hyperextensible skin.
-*Intestina rupture.
+*Hypermobile joints.
-*Uterine rupture.
+*Ruptures of intestinal, large arteries, cornea.
-*Easy bruising.
+*Poor wound healing.
-*Characteristic facies.
+==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==