Marfan Syndrome Ehlers Danlos Syndrome Type VI Type 1-2 Type Autosomal Dominant Autosomal Recessive Autosomal Dominant Most Common Mutation Fibrillin-1 Gene (FBN1) COL5A1 + COLA2 Hydroxylase Chromosome Chromosome 15 - Defect in Synthesis or Problem Fibrin Defect Structure of Fibrillar Collagen Hyper-Extensible Skin Tall (Arachnodactyly) Hyper-Mobile Joints Bilateral Subluxation of the Lens Clinical Features Retinal Detachment + Rupture of the Cornea Mitral Prolapse Diaphragmatic Hernia Aortic Dissection Poor Wound Healing Extras Created by Brittni McClellan
Marfan Syndrome Ehlers Danlos Syndrome Type Autosomal Dominant Type 1-2 Autosomal Dominant Type VI Autosomal Recessive Most Common Mutation Fibrillin-1 Gene (FBN1) COL5A1 + COLA2 Hydroxylase Chromosome Chromosome 15 - Problem Fibrin Defect Defect in Synthesis or Structure of Fibrillar Collagen Clinical Features Tall (Arachnodactyly) Bilateral Subluxation of the Lens Mitral Prolapse Aortic Dissection Hyper-Extensible Skin Hyper-Mobile Joints Retinal Detachment + Rupture of the Cornea Diaphragmatic Hernia Poor Wound Healing Extras Created by Brittni McClellan
pathology-1-block-2-genetic-disorder-charts.docx