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
Von Hippel Lindau Disease Von Recklinghausen Disease Type Autosomal Dominant Type 1 Autosomal Dominant Type 2 Autosomal Dominant Mutation VHL NF1 Mutation NF2 Mutation Chromosome Chromosome 3 Chromosome 17 Chromosome 22 Problem Loss of Tumor Suppressor Gene Loss of Tumor Suppressor Gene Loss of Tumor Suppressor Gene Clinical Features Hemangioblastomas (CNS) Renal Cell Carcinoma Pheochromocytoma Neurofibromas Café au Lait Spots Lisch Nodules (Iris) Bilateral Acoustic Schwannomas Meningiomas Café au Lait Spots NO LISCH NODULES Extras Renal Cell Carcinoma is Multiple and Bilateral because of the inherited gene affect. Familial Hypercholesteremia is the Most Common. LDL Receptor Defect Xanthomas, MIs, Atherosclerosis, etc. Created by Brittni McClellan Mucopolysaccharidoses:
Hunter Syndrome Hurler Syndrome Type X-Linked Recessive Autosomal Recessive Mutation Iduronate-2-Sulfatase a-1-Iduronidase Problem Accumulation of Dermantan Sulfate + Herperan Sulfate Clinical Features Coarse Facial Features Mental Retardation No Corneal Clouding Milder Symptoms Coarse Facial Features Mental Retardation Corneal Clouding Hepatosplenomegaly Created by Brittni McClellan Glycogen Storage Diseases:
Von Gierke Disease McArdle Disease Pompe Disease Type Autosomal Recessive Mutation Glucose 6 Phosphate Muscle Phosphorylase Alpha-Glucosidase Problem Accumulate Glycogen Hypoglycemia Clinical Features Liver Hepatomegaly Muscle Muscle Weakness Cramps Heart Restrictive Cardiomyopathy Created by Brittni McClellan Tay Disease Neimman Pick Gaucher Disease Type Autosomal Recessive Type 1 Autosomal Recessive Type 2 Autosomal Recessive Autosomal Recessive Most Common
Mutation Lysosomal Hexosaminidase Sphingomyelinase Glucocerebrosidase Chromosome Chromosome 15 Chromosome 11 Chromosome 1 Problem Accumulation of GM2 Gangliosides Accumulation of Sphingomyelin Accumulation of Cerebrosides Clinical Features Ashkenazi Jews Ballooned Cytoplasmic Vacuoles Cherry Spot on Macula Developmental Delay Severe Infantile Form RES CNS Hepatosplenomegaly Mild Adulthood RES NO CNS Adulthood RES NO CNS Must BIOPSY to differentiate from NP-Type 2 Crumpled Tissue Paper Extras RES Involvement: Lipid Laden Foamy Macrophages Fragile X: Triplet Repeat Disorder – FMR1 Gene – Mental Retardation, Macro-Orchidism – May have sister that has milder symptoms. Created by Brittni McClellan Trisomy 13 Trisomy 18 Trisomy 21 Type Patau Syndrome Edward’s Syndrome Down’s Syndrome Clinical Features within 6 Months Cleft Lip/Palate Rocker Bottom Feet Mental Retardation Death within 1 Year Micrognathia + Prominent Occiput Rocker Bottom Feet Mental Retardation Lives to Adulthood Most Commmon NJD in Maternal Meiosis 1 (Anaphase) Single Palmer Crease