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

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

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)

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

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

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