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Ehlers-Danlos Syndrome

genetic disease

Taylor Nienhuis

on 24 March 2010

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Transcript of Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Symptoms Easy Bruising Fragile Blood Vessels Loose joints Velvety, smooth skin Strechy Skin Abnormal wound healing or scar formation Rocker Feet Clenched Hands Treatment Inheritance Sources http://www.ohiohealth.com/mayo/images/image_popup/r7_autosomaldominant.gif http://en.wikipedia.org/wiki/Ehlers-Danlos_syndrome http://www.healthofchildren.com/E-F/Ehlers-Danlos-Syndrome.html http://www3.interscience.wiley.com/journal/122211268/abstract?CRETRY=1&SRETRY=0 http://www.medicinenet.com/ehlers-danlos_syndrome/article.htm Autosomal Dominant (common) Autosomal Recessive (rare) 2 Genes Hardship/Feelings No Cure Physical Therapy Ascorbic Acid (Vitamin C) Flint's Testimony Social Affects Physical Affects http://www.orthop.washington.edu/_Rainbow/Album/10357me1e83e78-d83d-427d-96ef-9ef74ac91332.gif About EDS Mutation in the Collogen, Type 1 Defect causes weak connection tissue Named after Edward Ehlers and Henri-Alexander Danlos Affects Humans and Animals Different Types Type 1&2 (Classical)- Affects 2-5 in 100,000 people. Typically presents severe skin problems. Type 3 (Hypermobility) - 1 in 10,000 to 15,000. Extremley flexible. Type 4 (Vascular) - 1000,000 to 250,000 people. Blood vessels and organs are prone to tearing. Type 6 (kyphoscoliosis) - Curvature of the spine, fragile eyes, severe muscle weakness. 7A&7B (Arthrochalasis) - Loose joints and dislocations. Type 7C (Dermatosparaxis) - Extremely fragile and saggy skin. http://www.3dchem.com/imagesofmolecules/Collagen2.jpg http://academic.sun.ac.za/ped/dept/rockers.jpg http://en.wikipedia.org/wiki/Collagen Joint Braces/Stabilizers Avoid Contact Activites Teachers/Friends/ Family Sex Linked (extremley rare)
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