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Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily) Abnormal protein connecting layers of skin.

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Presentation on theme: "Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily) Abnormal protein connecting layers of skin."— Presentation transcript:

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2 Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily) Abnormal protein connecting layers of skin

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5 Most often seen in Ehlers-Danlos Syndrome Hyperextensible joints Result of the production of abnormal collagen fibers

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7 Genetic condition- autosomal dominant (50/ 50 chance to pass to children)– 75% new mutation Features due to abnormal cartilage formation Gene affected- fibroblast growth factor receptor 3 (FGFR 3)

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9 Believed to be caused by a single abnormal gene Very rare (1 in 4 million) Causes accelerated aging (7 times normal rate) Very shortened life expectancy

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11 Growth of tumors on the nerves anywhere in the body anytime Can be mild to severe Autosomal dominant

12 Asymmetrical growths and abnormalities involving the face, skin, eyes, ears, lungs, muscles, and nerves No genetic link


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