eBook Gale Encyclopedia of Genetic Disorders, 4th Edition

  • Published By:
  • ISBN-10: 1410332802
  • ISBN-13: 9781410332806
  • DDC: 616.04203
  • Grade Level Range: 9th Grade - College Senior
  • 2162 Pages | eBook
  • Previous Editions: 2010, 2006, 2002
  • Original Copyright 2016 | Published/Released March 2016
  • This publication's content originally published in print form: 2016
  • Price:  Sign in for price

About

Overview

According to the Human Genome Project, as well as numerous medical research groups, significant new findings on genetic disorders occur nearly every week. Information on many of these disorders, however, is extremely difficult to come by -- until now. The Gale Encyclopedia Of Genetic Disorders addresses the need for current, hard-to-find facts on these emerging discoveries. The 3-vol. Encyclopedia provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons. Students will want to consult the Gale Encyclopedia of Genetic Disorders for useful information on a range of well-known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria. Presented in a single alphabetical sequence, entries range in length from 1,500 to 5,000 words. Entries relating to genetic disorders are presented in articles arranged in a standardized format for quick comparison and ease of use, while nondisorder topics are covered in detail with extended entries. Articles contain some or all of the following sections: definition, description -- overview of the disorder, genetic profile, demographics, signs and symptoms, diagnosis -- normal and abnormal test results are described, treatment and management, prognosis, key terms, resources -- bibliographies or contact information are provided.

Features and Benefits

  • Definitions — brief dictionary-style definition of the disorder.
  • Demographics — statistics on the occurrence of the disorder within demographic groups.
  • Descriptions — overview of the disorder; who gets it and why.
  • Diagnosis — overview of prenatal and other genetic tests and procedures used to diagnose the condition, including a description of normal and abnormal test results.
  • Genetic profile — for those conditions where this information is known, the inheritance pattern, location of gene and other pertinent details are presented.
  • Key terms — technical and scientific terms used in the entry are defined.
  • Prognosis — probable outcome of the disease.
  • Resources — bibliographies or contact information are provided for books, Web sites, national organizations and support groups.
  • Symptoms — physical and mental signs of the disorder.
  • Treatment & Management — overview of conventional methods of care or management of the condition, such as medication, therapies and diets.

What's New

  • Features 50 new and 485 updated entries.
  • Features a foreward.
  • Questions to ask your doctor.

Alternate Formats

  • Casebound Edition

    ISBN-10: 1410332810 | ISBN-13: 9781410332813

Table of Contents

18q deletion syndrome.
22q11.2 deletion syndrome.
22q13 deletion syndrome.
3-M Syndrome.
3-Methylglutaconic Aciduria, Type 2.
46,XX testicular disorder of sex development.
Aarskog syndrome.
Abetalipoproteinemia.
Absence of vas deferens.
Accutane embryopathy.
Aceruloplasminemia.
Achondrogenesis.
Achondroplasia.
ACHOO syndrome.
Acrocallosal syndrome.
Acromegaly.
Adams-Oliver syndrome.
Adelaide-type craniosynostosis.
Adenylosuccinate lyase deficiency.
Adrenoleukodystrophy.
Aicardi syndrome.
ALA dehydratase deficiency.
Alagille syndrome.
Albinism.
Alcoholism.
Alexander Disease.
Alkaptonuria.
Alpha thalassemia.
Alpha-1 antitrypsin.
Alpha-thalassemia X-linked mental retardation syndrome.
Alport syndrome.
Alstrom syndrome.
Alzheimer's disease.
Amelia.
Amelogenesis imperfect.
Amniocentesis.
Amyloidosis.
Amytrophic lateral sclerosis.
Androgen insensitivity syndrome.
Anemia, sideroblastic X-linked.
Anencephaly.
Angelman syndrome.
Ankylosing spondylitis.
Apert syndrome.
Arginase deficiency.
Arnold-Chiari malformation.
Arthrogryposis multiplex congenita.
Arthropathy-camptodactyly syndrome.
Asperger syndrome.
Asplenia.
Asthma.
Astrocytoma.
Ataxia-telangiectasia.
Attention-deficit/hyperactivity disorder.
Atypical Singleton-Merten Syndrome.
Autism spectrum disorders (ASD).
Autosomal-Dominant Multiple Pterygium Syndrome.
AUTS2 syndrome.
Bardet-Biedl syndrome.
Beare-Stevenson cutis gyrata syndrome.
Beckwith-Wiedemann syndrome.
Beta thalassemia.
Bicuspid aortic valve.
Biotinidase deficiency.
Bipolar disorder.
Birt-Hogg-Dubé syndrome.
Bloom syndrome.
Blue rubber bleb nevus syndrome.
Brachydactyly.
Branchiootorenal (BOR) syndrome.
Breast cancer.
Bruton agammaglobulinemia.
Campomelic dysplasia.
Camurati-Engelmann disease.
Canavan disease.
Cancer.
Cancer genetics.
Cardiofaciocutaneous syndrome.
Carnitine palmitoyltransferase deficiency.
Carpenter syndrome.
Caudal dysplasia.
CECR1 gene-recurrent fevers and strokes in children.
Celiac disease.
Cell free DNA test.
cell-free DNA (cfDNA) screening.
Cenani–Lenz syndrome.
Central core disease.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Cerebral palsy.
Channelopathies.
Charcot-Marie-Tooth disease.
CHARGE syndrome.
Chediak-Higashi syndrome.
Chondrodysplasia punctata.
Chondrosarcoma.
CHOPS syndrome.
Chorionic villus sampling.
Choroideremia.
Chromosomal abnormalities.
Chromosome.
Chromosome Map.
Cleft lip and palate.
Cleidocranial dysplasia.
CLP1 -degeneration of the peripheral nervous sysytem.
Clubfoot.
Cockayne syndrome.
CODAS Syndrome.
Coffin-Lowry syndrome.
Coffin-Siris syndrome.
Cohen syndrome.
Cole-Carpenter Syndrome.
Colitis.
Collagenopathy, types II and XI.
Coloboma.
Color blindness.
Combined pituitary hormone deficiency.
Cone-rod dystrophy.
Congenital adrenal hyperplasia.
Congenital contractural arachnodactyly.
Congenital heart disease.
Congenital hypothyroid syndrome.
Congenital Microcoria.
Conjoined twins.
Connectome genetics.
Corneal dystrophy.
Cornelia de Lange syndrome.
Corpus callosum, agenesis.
Costello syndrome.
Cowden syndrome.
Crane-Heise syndrome.
Craniofacial microsomia.
Craniosynostosis.
Creutzfeldt–Jakob disease.
Cri du chat syndrome.
Crisper/CAS9.
Crohn's.
Crouzon syndrome.
Crouzonodermoskeletal syndrome.
Cystic fibrosis.
Cystinosis.
Cystinuria.
Dandy-Walker malformation.
De Novo.
Dementia, hereditary forms.
Dent's disease.
Dentatorubral-pallidoluysian atrophy (DRPLA).
Depression.
Diabetes.
Diamond-Blackfan anemia.
Diastrophic dysplasia.
DNA (deoxyribonucleic acid).
Donohue syndrome.
Down syndrome.
Duane retraction syndrome.
Dubowitz syndrome.
Duchenne and Becker muscular dystrophy.
Dyschondrosteosis.
Dysplasia.
Dystonia.
Ectodermal dysplasia.
Ectrodactyly-ectodermal dysplasia-clefting syndrome.
Ehlers-Danlos syndrome.
Ellis-van Creveld syndrome.
Emery-Dreifuss muscular dystrophy.
Encephalocele.
Epidermolysis bullosa.
Epilepsy.
Erythropoietic porphyria.
Erythropoietic protoporphyria.
Essential hypertension.
Essential tremor.
Exome sequencing.
Fabry disease.
Facioscapulohumeral muscular dystrophy.
Factor V Leiden thrombophilia.
Familial adenomatous polyposis (FAP).
Familial dysautonomia.
Familial idiopathic basal ganglia calcification (FIBGC).
Familial lipoprotein lipase deficiency.
Familial lipoprotein lipase deficiency.
Familial Mediterranean fever.
Fanconi anemia.
Fanconi-Bickel syndrome.
Feingold syndrome.
Female meiotic drive.
Fetal alcohol syndrome.
FG syndrome.
Fibroblast growth factor receptorrelated conditions.
First trimester pregnancy screening.
Fluorescent in situ hybridization.
Focal dermal hypoplasia.
Fragile X syndrome.
Fraser syndrome.
Freeman-Sheldon syndrome.
Friedreich ataxia.
Frontonasal dysplasia.
Frontotemporal dementia.
Fryns syndrome.
Galactosemia.
Galactosialidosis.
Gastric cancer.
Gastroschisis.
Gaucher disease.
Gene.
Gene fusion.
Gene mutations.
Gene panel testing.
Gene pool.
Gene therapy.
Genetic counseling.
Genetic disorders.
Genetic Information Non-Discrimination Act (GINA).
Genetic mapping.
Genetic testing.
Genetics and congenital anomalies.
Genitalia, ambiguous.
Genome.
Genome sequencing.
Genome wide association study (GWAS)/Epigenome-wide Association Study (EWAS).
Genotype and phenotype.
Glaucoma.
Glycine encephalopathy.
Glycogen storage diseases.
GM1-gangliosidosis.
Greig cephalopolysyndactyly.
Griscelli syndrome.
Haim-Munk syndrome.
Hair loss syndromes.
Hallermann-Streiff syndrome.
Hand-foot-genital syndrome.
Harlequin ichthyosis.
Hemihypertrophy (Hemihyperplasia).
Hemochromatosis.
Hemolytic-uremic syndrome.
Hemophilia.
Hepatocellular carcinoma.
Herceptin.
Hereditary angioneurotic edema.
Hereditary colorectal cancer.
Hereditary coproporphyria.
Hereditary desmoid disease.
Hereditary hearing loss and deafness.
Hereditary hemorrhagic telangiectasia.
Hereditary hypertrophic cardiomyopathy (HCM).
Hereditary multiple exostoses (Hereditary Multiple Osteochondromas).
Hereditary neuropathy with liability to pressure palsies.
Hereditary pancreatitis.
Hereditary spastic paraplegia.
Hereditary spherocytosis.
Hermansky-Pudlak syndrome.
Hermaphroditism.
Hirschsprung disease.
Holoprosencephaly.
Holt-Oram syndrome.
Homocystinuria.
Human Genome Project.
Huntington disease.
Hutchinson-Gilford progeria syndrome.
Hydrocephalus.
Hydrolethalus syndrome 1 (HLS1).
Hydrops fetalis.
Hyperlipoproteinemia.
Hyperoxaluria.
Hyperphenylalaninemia.
Hypochondrogenesis.
Hypochondroplasia.
Hypophosphatasia.
Hypophosphatemia.
Hypospadias and epispadias.
Ichthyosis.
Imprinting.
Incontinentia pigmenti.
Inheritance.
Inherited Arrhythmia.
Jackson-Weiss syndrome.
Jacobsen syndrome.
Jervell and Lange-Nielsen syndrome.
Joubert syndrome.
Kabuki syndrome.
Kallmann syndrome.
Karyotype.
Keppen-Lubinsky Syndrome.
Klinefelter syndrome.
Klippel-Feil syndrome.
Klippel-Trenaunay-Weber syndrome.
Kniest dysplasia.
Krabbe disease.
L1 syndrome.
Langer-Saldino achondrogenesis.
Larsen syndrome.
Leber congenital amaurosis.
Leber’s Congenital Amaurosis/ Gene Therapy.
Lebers hereditary optic atrophy.
Leigh syndrome.
Lesch-Nyhan syndrome.
Leukodystrophy.
Li-Fraumeni syndrome.
Limb-girdle muscular dystrophy.
Lissencephaly.
Long QT syndrome.
Lowe oculocerebrorenal syndrome.
Lupus.
Lynch syndrome.
Macular degeneration, age-related.
Major histocompatibility complex.
Male infertility.
Malignant hyperthermia.
Mannosidosis, alpha- and beta-.
Marfan syndrome.
Marshall syndrome.
Marshall-Smith syndrome.
MCAD deficiency.
McCune-Albright syndrome.
McKusick-Kaufman syndrome.
Meckel-Gruber syndrome.
Meckel's diverticulum.
Menkes syndrome.
Metaphyseal dysplasia.
Methemoglobinemia, beta-globin type.
Methylmalonic acidemia.
Micro Syndrome.
microbiome.
Microcephaly (childhood).
Microcephaly and Hypomyelination.
microsephaly with spastic diplegia.
Microphthalmia with linear skin defects (MLS).
Miller-Dieker syndrome.
Mitochondrial disease.
Moebius syndrome.
Monosomy 1p36 syndrome.
Mowat-Wilson Syndrome.
Moyamoya.
Mucolipidosis.
Mucopolysaccharidoses.
Muir-Torre syndrome.
Multifactorial inheritance.
Multiple endocrine neoplasias.
Multiple epiphyseal dysplasia.
Multiple lentigines syndrome.
Multiple sclerosis.
Multiplex ligation-dependent probe amplification.
Muscular dystrophy.
Myasthenia gravis.
MYH9-related disorder.
Myopia.
myotonia congenita (MC).
Myotonic dystrophy.
Myotubular myopathy.
Nail-patella syndrome.
Nance-Insley syndrome.
Narcolepsy.
Nephrogenic diabetes insipidus.
Neu-Laxova syndrome.
Neural tube defects.
Neurofibromatosis.
Neuronal ceroid lipofuscinoses.
Nevoid basal cell carcinoma.
Mitochondrial disease, molecular diagnosis/next gen.
Next-Gen sequencing.
NGLY1 developmental delays, abnormal tear production, liver disease..
Niemann-Pick disease.
Nijmegen breakage syndrome.
Noonan syndrome.
Norrie disease.
Obesity.
Oculodentodigital syndrome.
Oligohydramnios sequence.
Omphalocele.
Oncogene.
Opitz G/BBB syndrome.
Oral-facial-digital syndrome.
Organic acidemias.
Ornithine transcarbamylase deficiency.
Osteoarthritis.
Osteogenesis imperfecta.
Osteoporosis.
Osteosarcoma.
Otopalatodigital syndrome.
Ovarian cancer.
Pallister-Hall syndrome.
Pallister-Killian syndrome.
Pancreatic beta cell agenesis.
Pancreatic cancer.
Panic disorder.
Pantothenate kinase-associated neurodegeneration (PKAN).
Parkinson's disease.
Paroxysmal nocturnal hemoglobinuria.
Patent ductus arteriosus.
Pedigree analysis.
Pelizaeus-Merzbacher disease.
Pendred syndrome.
Pervasive developmental disorders.
Peutz-Jeghers syndrome.
Pfeiffer syndrome.
Pharmacogenetics.
Phenylketonuria (PKU).
Pierre-Robin sequence.
Poland anomaly.
Polycystic kidney disease.
Polycystic ovary syndrome.
Polydactyly.
Pompe disease.
pontocerebellar hypolasia (PCH).
Porphyrias.
Prader-Willi syndrome.
Pre-implantation genetic diagnosis.
Prenatal ultrasound.
Primary ciliary dyskinesia.
Primordial Dwarfism.
Prion diseases.
Propionic acidemia.
Prostate cancer.
Protein C deficiency.
Protein S deficiency.
Proteus syndrome.
PRPS1 gene mutation-progessive hearing loss in males.
Prune-belly syndrome.
Pseudo-Gaucher disease.
Pseudoachondroplasia.
Pseudoxanthoma elasticum.
PTSD.
Pulmonary arterial hypertension.
Pyloric stenosis.
Pyruvate carboxylase deficiency.
Pyruvate dehydrogenase complex deficiency.
Pyruvate kinase deficiency.
Raynaud's disease.
Refsum disease.
Renal agenesis.
Renal failure due to hypertension.
Renal-Hepatic Ciliopathy.
Renpenning syndrome.
Retinitis pigmentosa.
Retinoblastoma.
Rett syndrome.
Rheumatoid arthritis.
Rhizomelic chondrodysplasia punctata.
Rhodopsin.
Rieger syndrome.
RNA (Ribonucleic acid).
Roberts SC phocomelia.
Robinow syndrome.
Rothmund-Thomson syndrome.
Rubinstein-Taybi syndrome.
Russell-Silver syndrome.
Saethre-Chotzen syndrome.
Schinzel-Giedion syndrome.
Schizophrenia.
Schwartz-Jampel syndrome.
Scleroderma.
Scoliosis.
Seckel syndrome.
Septo-optic dysplasia.
Severe combined immunodeficiency.
Short-rib polydactyly.
Shprintzen-Goldberg craniosynostosis syndrome.
Sialidosis.
Sickle cell disease.
Simpson-Golabi-Behmel syndrome.
single cell genome sequenicning.
Sirenomelia.
Laterality sequence noit Situs inversus.
Sjögren-Larsson syndrome.
Skeletal dysplasia.
Smith-Fineman-Myers syndrome.
Smith-Lemli-Opitz syndrome.
Smith-Magenis syndrome.
SOST-related sclerosing bone dysplasia.
Sotos syndrome.
SPARCA1 Spectrin-associated Autosomal Recesive Cerebellar ataxia type1.
Spastic cerebral palsy.
Spina bifida.
Spinal and bulbar muscular atrophy.
Spinal muscular atrophy.
Spinocerebellar ataxia.
Spinocerebellar ataxia type 3 (SCA3).
Spondyloepiphyseal dysplasia.
Spondyloepiphyseal dysplasia congenita.
SRY (sex determining region Y).
Stargardt disease.
Steroid-Resistant Nephrotic Syndrome/Galloway-Mowat Syndrome.
Stickler syndrome.
Sturge-Weber syndrome.
Super Enhancers (SE).
SW1/SNF related autism syndrome.
Tangier disease.
TAR syndrome.
Tay-Sachs disease.
Teratogen.
Thalidomide embryopathy.
Thanatophoric dysplasia.
Thoracic Aortic Aneurysms.
Glanzmann thrombasthenia (GT) aka Thrombasthenia of Glanzmann and Naegeli.
Thyroid hormone resistance syndrome.
Tourette syndrome.
Treacher Collins syndrome.
Trichorhinophalangeal syndrome.
Triosephosphate isomerase deficiency.
Triple X syndrome.
Triploidy.
Trismus-pseudocamptodactyly syndrome.
Trisomy 13.
Trisomy 18.
Trisomy 8 mosaicism syndrome.
Tuberous sclerosis complex.
Turner syndrome.
Twin reversed arterial perfusion trap sequence.
Urea cycle disorders.
Urogenital adysplasia syndrome.
Usher Syndrome.
Van der Woude syndrome.
VATER association.
Von Hippel-Lindau syndrome.
Von Willebrand disease.
Waardenburg syndrome.
Walker-Warburg syndrome.
Weaver syndrome.
Weissenbacher-Zweymuller syndrome.
Werner syndrome.
Williams syndrome.
Wilson disease.
Wiskott-Aldrich syndrome.
Wolf-Hirschhorn syndrome.
Wolman disease.
X-linked intellectual disability.
X-linked severe combined immunodeficiency.
Xeroderma pigmentosum.
Xmen.
XXXX syndrome.
XXXXX syndrome.
XYY syndrome.
YY syndrome.
Zellweger spectrum.
Zimmerman-Laband Syndrome.
Zinner syndrome: an uncommon cause of painful ejaculation.
Zygote.