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

• Introduction
• VOLUME 1
• Overviews
• Genetic Disorders 101
• Proteomics 101
• The Genome and the Foundations of Genetics, with Timelines
• Diseases, Disorders, and Special Topics
• A
• 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
• B
• 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
• C
• 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)
• D
• 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)
• E
• 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
• F
• 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
• G
• 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
• H
• Hand-Foot-Uterus Syndrome (HFU)
• Harlequin Ichthyosis (HI)
• Haw River Syndrome.
• 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
• I
• Inclusion Body Myopathy-2
• Incontinentia Pigmenti (IP)
• Infantile Neuroaxonal Dystrophy
• Infantile Systemic Hyalinosis
• Isovaleric Acidemia (IVA)
• J
• 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
• K
• 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
• L
• 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
• M
• 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
• N
• 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
• O
• 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
• P
• 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
• R
• 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)
• S
• 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
• T
• 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)
• U
• Ullrich Congenital Muscular Dystrophy (UCMD)
• Unverricht-Lundborg Disease (ULD)
• Urea Cycle Disorders (UCD)
• Uromodulin-Associated Kidney Disease
• Usher Syndrome
• V
• VACTERL Association
• Van der Woude Syndrome
• Vitelliform Macular Dystrophy
• Vitiligo
• VLDLR-Associated Cerebellar Hypoplasia
• Von Hippel–Lindau Syndrome
• Von Willebrand Disease
• W
• 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
• 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
• Y Chromosome: A Special Topic
• Y Chromosome Infertility
• Z
• ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID)
• Zellweger Syndrome
• Helpful Resources about Genetic Disorders
• About the Author