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This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself.

Table of Contents

VOLUME 1 Introduction Overviews Genetic Disorders 101, Proteomics 101, The Genome and the Foundations of Genetics, with Timelines, Diseases, Disorders, and Special Topics Aarskog-Scott Syndrome (AS) Aase-Smith Syndrome Achondroplasia ACHOO Syndrome Achromatopsia Acoustic Neuroma Acute Promyelocytic Leukemia Adenosine Deaminase Deficiency Age-Related Macular Degeneration (AMD) Aging and Genetics: A Special Topic Aicardi-Goutieres Syndrome (AGS) Alagille Syndrome Albinism Alexander Disease Alkaptonuria Allan-Herndon-Dudley Syndrome Alpha-1 Antitrypsin Deficiency (A1AT) Alpha Thalassemia Alport Syndrome Alzheimer Disease (AD) Amyotrophic Lateral Sclerosis (ALS) Androgen Insensitivity Syndrome Androgenetic Alopecia Angelman Syndrome (AS) Ankylosing Spondylitis (AS) Apert Syndrome Arts Syndrome Autism/Autism Spectrum Disorders Bardet-Biedl Syndrome Bassen-Kornzweig Syndrome Batten Disease Beare-Stevenson Cutis Gyrata Syndrome Beckwith-Wiedemann Syndrome (BWS) Behçet Disease Berardinelli-Seip Congenital Lipodystrophy Beta Thalassemia Bloom Syndrome Boomerang Dysplasia Breast Cancer Genetics: A Special Topic Bruton Agammaglobulinemia Burger-Grutz Syndrome CADASIL Campomelic Dysplasia Camurati-Englemann Disease Canavan Disease Carney Complex Celiac Disease Cerebrotendinous Xanthomatosis Charcot-Marie-Tooth Disease CHARGE Syndrome Chediak-Higashi Syndrome (CHS) Cockayne Syndrome Coffin-Lowry Syndrome (CLS) Collagen: A Special Topic Congenital Hypertrichosis Cornelia de Lange Syndrome (CdLS) Costello Syndrome (CS) Cowden Syndrome (CS) Cri-du-Chat Syndrome Crohn Disease Crouzon Syndrome Cyclic Vomiting Syndrome (CVS) Cystic Fibrosis (CF) Dandy-Walker Syndrome (DWS) Danon Disease Darier Disease (DAR) Dentatorubral-Pallidoluysian Atrophy (DRPLA) Diabetic Embryopathy Diamond-Blackfan Anemia (DBA) Diastrophic Dysplasia Donnai-Barrow Syndrome Down Syndrome (DS) Duane-Radial Ray Syndrome Duchenne/Becker Muscular Dystrophy Dystrophic Epidermolysis Bullosa (EB) Early-Onset Glaucoma Early-Onset Primary Dystonia Ehlers-Danlos Syndrome (EDS) Ellis–Van Creveld Syndrome Emanuel Syndrome Embryology: A Special Topic Embryopathies: A Special Topic Emery-Dreifuss Muscular Dystrophy (EDMD) Epidermal Nevus and Epidermal Nevus Syndrome Epilepsy Erythromelalgia (EM) Essential Tremor (ET) Eugenics: A Special Topic Fabry Disease Facioscapulohumeral Muscular Dystrophy (FSHMD) Factor V Leiden Thrombophilia Fahr Disease Familial Adenomatous Polyposis (FAP) Familial Atrial Fibrillation (AF) Familial Cold Autoinflammatory Syndrome Familial Dysautonomia (FD) Fanconi Anemia Fanconi Syndrome Feingold Syndrome Fetal Alcohol Spectrum Disorders (FASD) Fetal Isotretinoin Syndrome FG Syndrome Fibrodysplasia Ossificans Progressiva (FOP) 46,XX Testicular Disorder of Sex Development 47,XYY Syndrome 48,XXYY Syndrome Fragile X Syndrome Freeman-Sheldon Syndrome Friedreich Ataxia (FRDA) Fryns Syndrome Fucosidosis Fumerase Deficiency Galactosemia Galactosialidosis Gastroschisis Gaucher Disease Gene Therapy: A Special Topic Genetic Counseling: A Special Topic Genomic Testing: A Special Topic Giant Axonal Neuropathy (GAN) Gitelman Syndrome Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Glucose-Galactose Malabsorption (GGM) GLUT1 Deficiency Syndrome GM1 Gangliosidosis Greig Cephalopolysyndactyly Syndrome (GCPS) Guanidinoacetate Methyltransferase Deficiency Gyrate Atrophy of the Choroid and Retina Hand-Foot-Uterus Syndrome (HFU) Harlequin Ichthyosis (HI) Hemifacial Microsomia (HFM) Hemochromatosis Hemolytic-Uremic Syndrome Hemophilia Hereditary Angioedema Hereditary Antithrombin Deficiency (AT) Hereditary Folate Malabsorption Hereditary Hearing Disorders and Deafness: A Special Topic Hereditary Hemorrhagic Telangiectasia (HHT) Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Multiple Exostoses Hereditary Neuralgic Amyotrophy (HNA) Hereditary Pancreatitis Hereditary Paraganglioma-Pheochromocytoma (Pheochromocytoma) Hereditary Spherocytosis Hermansky-Pudlak Syndrome Holocarboxylase Synthetase Deficiency (HCSD) Holt-Oram Syndrome (HOS) Huntington Disease Hutchinson-Gilford Progeria Syndrome (HGPS) Hypercholesterolemia, Familial Hypochondrogenesis Hypochondroplasia (HCH) Hypohidrotic Ectodermal Dysplasia (HED) Hypophosphatemia Inclusion Body Myopathy-2 Incontinentia Pigmenti (IP) Infantile Neuroaxonal Dystrophy Infantile Systemic Hyalinosis Isovaleric Acidemia (IVA) Jackson-Weiss Syndrome (JWS) Jacobsen Syndrome Jervell and Lange-Nielsen Syndrome (JLNS) Jeune Syndrome (Asphyxiating Thoracic Dystrophy) Job Syndrome Joubert Syndrome Juvenile Polyposis Syndrome (JPS) Juvenile Primary Lateral Sclerosis Kabuki Syndrome Kallmann Syndrome Kartagener Syndrome Karyotyping: A Special Topic Kawasaki Disease Kearns-Sayre Syndrome (KSS) Kennedy Disease (KD) Kleefstra Syndrome Klinefelter Syndrome Klippel-Feil Syndrome Kniest Dysplasia Knobloch Syndrome Krabbe Disease Kufs Disease VOLUME 2 L1 Syndrome Lactose Intolerance Lafora Progressive Myoclonus Epilepsy Laing Distal Myopathy Langer-Giedion Syndrome Larsen Syndrome Leber Hereditary Optic Neuropathy (LHON) Legal and Ethical Issues: A Special Topic Legius Syndrome Leigh Syndrome Lenz Microphthalmia Syndrome LEOPARD Syndrome Lesch-Nyhan Syndrome (LNS) Li-Fraumeni Syndrome (LFS) Lissencephaly Lowe Syndrome Lujan-Fryns Syndrome Lymphedema-Distichiasis Syndrome Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer Majeed Syndrome Malignant Hyperthermia Mannosidosis Maple Syrup Urine Disease (MSUD) Marfan Syndrome MCAD Deficiency McCune-Albright Syndrome McKusick-Kaufman Syndrome (MKS) Meckel-Gruber Syndrome Melnick-Needles Syndrome Ménière Disease Menkes Syndrome Metachromatic Leukodystrophy Methylmalonic Acidemia (MMA) Milroy Disease Model Organisms: A Special Topic Mowat-Wilson Syndrome Muckle-Wells Syndrome Mucopolysaccharidosis Type I Multiple Endocrine Neoplasia Multiple Epiphyseal Dysplasia Myopathy, Centronuclear Myotonic Dystrophy Nail-Patella Syndrome Nance-Insley Syndrome Narcolepsy Nephrogenic Diabetes Insipidus Neurofibromatosis Type 1 (NF1) Neurofibromatosis Type 2 (NF2) Nevoid Basal Cell Carcinoma Syndrome Newborn Screening: A Special Topic Niemann-Pick Disease Nijmegen Breakage Syndrome Noonan Syndrome Norrie Disease Obesity: A Special Topic Ocular Albinism Oculodentodigital Dysplasia Opitz G/BBB Syndrome Oral-Facial-Digital Syndrome Ornithine Transcarbamylase Deficiency Ornithine Translocase Deficiency Osler-Rendu-Weber Disease (OWRD) Osteogenesis Imperfecta (OI) Osteopetrosis Oxalosis Pachyonychia Congenita Paget Disease of Bone Pallister-Hall Syndrome Pallister-Killian Mosaic Syndrome Pantothenate Kinase-Associated Neurodegeneration (PKAN) Paramyotonia Congenita Parkinson Disease (PD) Paroxysmal Nocturnal Hemoglobinuria Patent Ductus Arteriosus (Char Syndrome) Pelizaeus-Merzbacher Disease (PMD) Pendred Syndrome Periventricular Heterotopia Peters Plus Syndrome Peutz-Jeghers Syndrome (PJS) Pfeiffer Syndrome Phelan-McDermid Syndrome Phenylketonuria (PKU) Polycystic Kidney Disease (PKD) Polycythemia Vera Pompe Disease Porphyrias Prader-Willi Syndrome (PWS) Primary Carnitine Deficiency Prion Disease Progressive Osseous Heteroplasia (POH) Propionic Acidemia Protein C Deficiency Protein S Deficiency Proteus Syndrome Prothrombin Deficiency Prune Belly Syndrome Pseudoachondroplasia Pseudoxanthoma Elasticum (PXE) Psoriatic Arthritis Pyridoxine-Dependent Epilepsy Pyruvate Dehydrogenase Complex Deficiency Recombinant 8 Syndrome Refsum Disease Renpenning Syndrome Retinitis Pigmentosa (RP) Retinoblastoma Rett Syndrome Rhizomelic Chondrodysplasia Punctata Ring Chromosomes: A Special Topic Robinow Syndrome Rogers Syndrome Romano-Ward Syndrome (RWS) Rothmund-Thomson Syndrome (RTS) Rubinstein-Taybi Syndrome Russell-Silver Syndrome (RSS) Saethre-Chotzen Syndrome Schindler Disease Schwartz-Jampel Syndrome (SJS) Shprintzen-Goldberg Syndrome (SGS) Sialidosis Sickle-Cell Disease Sjögren-Larsson Syndrome (SLS) Smith-Fineman-Myers Syndrome (SFMS) Smith-Lemli-Opitz Syndrome (SLOS) Smith-Magenis Syndrome (SMS) Sotos Syndrome Spastic Paralysis, Infantile-Onset Ascending Hereditary Spina Bifida Spinal Muscular Atrophy (SMA) Spinocerebellar Ataxia, Type 1 Spondyloepiphyseal Dysplasia Congenita (SED Congenita) Stargardt Macular Degeneration Stickler Syndrome Systemic Scleroderma Tangier Disease TAR Syndrome (Thrombocytopenia-Absent Radius) Tay-Sachs Disease (TSD) Thanatophoric Dysplasia 3-M Syndrome Tourette Syndrome Treacher Collins Syndrome Triosephosphate Isomerase Deficiency (TPI Deficiency) Triple X Syndrome Trisomy 13 (Patau Syndrome) Trisomy 18 (Edwards Syndrome) Tuberous Sclerosis Complex Turner Syndrome (TS) Ullrich Congenital Muscular Dystrophy (UCMD) Unverricht-Lundborg Disease (ULD) Urea Cycle Disorders (UCD) Uromodulin-Associated Kidney Disease Usher Syndrome VACTERL Association Van der Woude Syndrome Vitelliform Macular Dystrophy Vitiligo VLDLR-Associated Cerebellar Hypoplasia Von Hippel–Lindau Syndrome Von Willebrand Disease Waardenburg Syndrome (WS) Wagner Syndrome Walker-Warburg Syndrome (WWS) Weill-Marchesani Syndrome Weissenbacher-Zweymüller Syndrome Werner Syndrome Williams Syndrome Wilms Tumor and WAGR Syndrome Wilson Disease (WD) Wiskott-Aldrich Syndrome (WAS) WNT4 Müllerian Aplasia and Ovarian Dysfunction Wolf-Hirschhorn Syndrome (WHS) Wolff-Parkinson-White Syndrome Wolman Disease X Chromosome: A Special Topic Xeroderma Pigmentosum (XP) X-Linked Adrenal Hypoplasia Congenital X-Linked Adrenoleukodystrophy X-Linked Agammaglobulinemia (XLA) X-Linked Congenital Stationary Night Blindness X-Linked Creatine Deficiency X-Linked Dystonia-Parkinsonism X-Linked Hyper IgM Syndrome X-Linked Infantile Nystagmus X-Linked Juvenile Retinoschisis X-Linked Lymphoproliferative Disease (XLP) X-Linked Myotubular Myopathy X-Linked Severe Combined Immunodeficiency X-Linked Sideroblastic Anemia X-Linked Sideroblastic Anemia and Ataxia Y Chromosome: A Special Topic Y Chromosome Infertility ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID) Zellweger Syndrome Helpful Resources about Genetic Disorders, About the Author, Index,

About the Author

Evelyn B. Kelly, PhD, is a professor of educational leadership at Saint Leo University, Ocala Center, FL.

Reviews

Encyclopedia of Human Genetics and Disease has some qualities that could recommend it for a less specialized audience that would appreciate placement of the genetics topics in a broader context and could benefit from the genetics primers and special topic overviews.
*Reference Reviews*

This is an excellent resource for school, public, and consumer health libraries, offering a very accessible presentation of complex material.
*Booklist*

This resource is a quick guide that will be of particular use for high school students beginning a research paper, but may also be useful to early undergraduates looking for basic information on a particular genetic disease. . . . The entries will not overwhelm a student new to the topic, but they also provide additional resources as a gateway to more in-depth information if a student wishes to go further.
*ARBA*