====== 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}}