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--- ehlers_danlos_syndrome [2024/04/11 19:06] – created Scott Larson
+++ ehlers_danlos_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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-====== Ehlers-Danlos Syndrome ======
+====== Ehlers-Danlos Syndrome (EDS)======
+====Main Features====
+  * Group of heritable connective tissue disorders
+  * tissue fragility
+  * hypermobility
+  * skin and joint hyperextensibility
+====Eye Findings====
+  * Floppy eyelids
+  * Ptosis 32%
+  * Infraorbital creases 30%
+  * Myopia 25%
+  * Epicanthal folds 19%
+  * Strabismus 8%
+    * convergence insufficiency
+  * lenticular changes
+    * Ectopia lentis
+  * Blue sclerae
+  * conjunctivochalasis
+  * Dry eye
+  * Thin corneal pachymetry and steep keratometry
+  * possibly angoid streaks (debatable)
+    * only documented present in first report of this condition
+====Other Findings====
+  * Vascular type
+    * cervical artery dissection
+    * multiple bone fractures
+    * prolonged recovery from concussion
+    * inguinal hernia
+    * poor exercise tolerance
+    * pain intolerance
+====Etiology====
+  * Gene defect involving collagen
+    * usually collagen types I, III, and V
+    * {{::the_2017_international_classification_of_the_ehlers_danlos_syndromes.pdf |Ehlers-Danlos Syndrome International Classification 2017}}
+    * Disruption of the collagen fibrils
+    * Classical EDS
+      * mutations in COL5A1 and COL5A2
+    * Vascular EDS
+      * mutations in COL3A1
+====Ddx of joint hypermobility====
+  * [[marfan_syndrome|Marfan Syndrome]]
+  * Cutis Laxa
+  * Pseudoxanthoma elasticum
+  * Loeys-Deitz syndrome
+====Reference====
+[[https://eyewiki.aao.org/Ehlers-Danlos_Syndrome|EyeWiki]]\\
+[[https://jamanetwork-com.proxy.lib.uiowa.edu/journals/jamaophthalmology/fullarticle/2717493Singman | EL, Doyle JJ. Angioid Streaks Are Not a Common Feature of Ehlers-Danlos Syndrome. JAMA Ophthalmol. 2019;137(3):239.]]\\
+{{:the_2017_international_classification_of_the_ehlers_danlos_syndromes.pdf |2017 International Classification}}
+{{tag>syndrome}}

syndrome