Epidermolysis Bullosa "Butterfly Babies"

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

What does EB look like?

Hyperelastic Skin "India Rubber Skin"

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

Achondroplasia "Dwarfism"

What causes achondroplasia? 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)

Progeria "prematurely old"

What is progeria? 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

Neurofibromatosis "Elephant man disease" Proteus

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

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