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Published byLily Copeland Modified over 8 years ago
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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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Most often seen in Ehlers-Danlos Syndrome Hyperextensible joints Result of the production of abnormal collagen fibers
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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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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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Growth of tumors on the nerves anywhere in the body anytime Can be mild to severe Autosomal dominant
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Asymmetrical growths and abnormalities involving the face, skin, eyes, ears, lungs, muscles, and nerves No genetic link
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