CONTENTS. List of Entries...vii Introduction...xiii Advisory Board... xv Contributors... xvii Symbol Guide for Pedigree Charts...

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1 CONTENTS List of Entries...vii Introduction....xiii Advisory Board... xv Contributors.... xvii Symbol Guide for Pedigree Charts...xxi Entries Volume 1: A-L Volume 2: M-Z Appendix Chromosome Map Organizations List Glossary General Index v

2 LIST OF ENTRIES A 22q13 deletion Aarskog Aase Abetalipoproteinemia Acardia Accutane embryopathy Achondrogenesis Achondroplasia Achoo Acrocallosal Acromegaly Adams-Oliver Adrenoleukodystrophy Aicardi Alagille Albinism Alcoholism Alkaptonuria Alpha-1 antitrypsin Alpha-thalassemia X-linked mental retardation Alzheimer disease Amelia Amniocentesis Amyoplasia Amyotrophic lateral sclerosis Androgen insensitivity Anemia, sideroblastic X-linked Anencephaly Angelman Ankylosing spondylitis Apert Arginase Arnold-Chiari malformation Arthrogryposis multiplex congenita Arthropathy-camptodactyly Asperger Asplenia Asthma Ataxia-telangiectasia Attention deficit hyperactivity disorder Autism Azorean disease B Bardet-Biedl Batten disease Beals Beare-Stevenson cutis gyrata Beckwith-Wiedemann Beta thalassemia Bicuspid aortic valve Biotinidase Bipolar disorder Bloom Blue rubber bleb nevus Brachydactyly Branchiootorenal Breast cancer Bruton agammaglobulinemia C Cadasil Campomelic dysplasia Canavan disease Cancer Cardiofaciocutaneous Carnitine palmitoyltransferase Carpenter Caudal dysplasia Celiac disease Central core disease Cerebral palsy Charcot-Marie-Tooth disease Charge Chediak-Higashi Chondrodysplasia punctata Chondrosarcoma Choroideremia Chromosomal abnormalities Chromosome Cleft lip and palate Cleidocranial dysplasia Clubfoot Cockayne Coffin-Lowry Coffin-Siris Cohen Coloboma Color blindness Cone-rod dystrophy Congenital adrenal hyperplasia Congenital heart disease Congenital hypothyroid Conjoined twins Corneal dystrophy Cornelia de Lange Corpus callosum agenesis Costello Crane-Heise Craniosynostosis Cri du chat Crouzon Cystic fibrosis Cystinosis Cystinuria vii

3 List of Entries D Dandy-Walker malformation Deletion 22q11 Dementia Dentatorubral-pallidoluysian atrophy Depression Diabetes Diastrophic dysplasia Distal arthrogryposis DNA Donohue Down Duane retraction Dubowitz Duchenne muscular dystrophy Dyschondrosteosis Dysplasia Dystonia E Ectodermal dysplasia Ectrodactyly-ectodermal dysplasiaclefting Ehlers-danlos Ellis-van Creveld Emery-Dreifuss muscular dystrophy Encephalocele Engelmann disease Epidermolysis bullosa Epilepsy Essential hypertension Essential tremor F Fabry disease Facioscapulohumeral muscular dystrophy Factor V Leiden thrombophilia Fahr disease Familial adenomatous polyposis Familial dysautonomia Familial mediterranean fever Familial nephritis Fanconi-Bickel Fanconi anemia Fetal alcohol FG Fibroblast growth factor receptor mutations Fluorescent in situ hybridization Fragile X Fraser Freeman-Sheldon Friedreich ataxia Frontonasal dysplasia Frontotemporal dementia Fryns G Galacktokinase Galactosemia Gastric cancer Gastroschisis Gaucher disease Gene Gene mutations Gene pool Gene therapy Genetic counseling Genetic disorders Genetic mapping Genetic testing Genetics and congenital anomalies Genitalia ambiguous Genotype and phenotype Glaucoma Glycogen storage diseases Gm1-gangliosidosis Goltz Greig cephalopolysyndactyly Griscelli H Haim-Munk Hair loss s Hallermann-Streiff Hand-foot-uterus Harlequin fetus Hemifacial microsomia Hemihypertrophy hemihyperplasia Hemochromatosis Hemolytic-uremic Hemophilia Hepatocellular carcinoma Hereditary angioneurotic edema Hereditary colorectal cancer Hereditary desmoid disease Hereditary hearing loss and deafness Hereditary multiple exostoses Hereditary pancreatitis Hereditary spastic paraplegia Hereditary spherocytosis Hermansky-Pudlak Hermaphroditism Hirschsprung disease Holoprosencephaly Holt-Oram Homocystinuria Human genome project Huntington disease Hydrocephalus Hydrolethalus Hydrops fetalis Hyperlipoproteinemia Hypochondrogenesis Hypochondroplasia Hypophosphatasia Hypophosphatemia Hypospadias and epispadias I Ichthyosis Imprinting Incontinentia pigmenti Infantile refsum disease Inheritance J Jackson-Weiss Jacobsen Jervell and Lange-Nielsen Joubert K Kabuki Kallmann Kartagener Karyotype Kennedy disease viii

4 Klinefelter Klippel-Feil sequence Klippel-Trenaunay-Weber Krabbe disease L Larsen Laterality sequence Leber congenital amaurosis Lebers hereditary optic atrophy Leigh Lesch-Nyhan Leukodystrophy Li-Fraumeni Limb-girdle muscular dystrophy Lissencephaly Long QT Lowe oculocerebrorenal M Macular degeneration age-related Major histocompatibility complex Malignant hyperthermia Mannosidosis Marfan Marshall-Smith Marshall MCAD Mccune-Albright McKusick-Kaufman Meckel-Gruber Meckels diverticulum Menkes Metaphyseal dysplasia Methylmalonic acidemia Methylmalonicaciduria due to methylmalonic coa mutase Microphthalmia with linear skin defects Miller-Dieker Moebius Moyamoya Mucolipidosis Mucopolysaccharidoses Mucopolysaccharidosis type I Mucopolysaccharidosis type II Muir-Torre Multifactorial inheritance Multiple endocrine neoplasias Multiple epiphyseal dysplasia Multiple lentigenes Multiple sclerosis Multiplex ligation-dependent probe amplification Muscular dystrophy Myasthenia gravis Myopia Myotonic dystrophy Myotubular myopathy N Nail-patella Narcolepsy Nephrogenic diabetes insipidus Neu-Laxova Neural tube defects Neuraminidase Neuraminidase with betagalactosidase Neurofibromatosis Nevoid basal cell carcinoma Niemann-Pick disease Nijmegen breakage Noonan Norrie disease O Oculo-digito-esophago-duodenal Oculodentodigital Oligohydramnios sequence Omphalocele Oncogene Opitz Oral-facial-digital Organic acidemias Ornithine transcarbamylase Osler-Weber-Rendu Osteoarthritis Osteogenesis imperfecta Osteoporosis Otopalatodigital Ovarian cancer P Paine Pallister-Hall Pallister-Killian Pancreatic beta cell agenesis Pancreatic cancer Panic disorder Parkinson disease Paroxysmal nocturnal hemoglobinuria Patent ductus arteriosus Pedigree analysis Pelizaeus-Merzbacher disease Pendred Pervasive developmental disorders Peutz-Jeghers Pfeiffer Pharmacogenetics Phenylketonuria Pierre Robin sequence Pituitary dwarfism Poland anomaly Polycystic kidney disease Polycystic ovary Polydactyly Pompe disease Porphyrias Prader-Willi Prenatal ultrasound Prion diseases Progeria Propionic acidemia Prostate cancer Proteus Prune-belly Pseudoachondroplasia Pseudoxanthoma elasticum Pyloric stenosis Pyruvate carboxylase Pyruvate dehydrogenase complex Pyruvate kinase R Raynauds disease Refsum disease Renal agenesis Renal failure due to hypertension Renpenning List of Entries ix

5 List of Entries Retinitis pigmentosa Retinoblastoma Rett Rheumatoid arthritis Rhizomelic chondrodysplaia punctata Rhodopsin Rieger RNA Roberts SC phocomelia Robinow Rothmund-Thomson Rubinstein-Taybi Russell-Silver S Saethre-Chotzen Schinzel-Giedion Schizophrenia Schwartz-Jampel Scleroderma Sclerosing bone dysplasias Scoliosis Sebastian Seckel Septo-optic dysplasia Severe combined immuno Short-rib polydactyly Shprintzen-goldberg craniosynostosis Sickle cell disease Simpson-Golabi-Behmel Sirenomelia Sjögren Larsson Skeletal dysplasia Smith-Fineman-Myers Smith-Lemli-Opitz Smith-Magenis Sotos Spastic cerebral palsy Spina bifida Spinal muscular atrophy Spinocerebellar ataxia Spondyloepiphyseal dysplasia SRY (sex determining region y) Stargardt disease Stickler Sturge-Weber Sutherland-Haan Systemic elastorrhexis T Tangier disease TAR Tay-Sachs disease Teratogen Thalassemia Thalidomide embryopathy Thanatophoric dysplasia Thrombasthenia of Glanzmann and Naegeli Tourette Treacher Collins Trichorhinophalangeal Triose phosphate isomerase Triploidy Trismus pseudocamptodactyly Trisomy 8 mosaicism Trisomy 13 Trisomy 18 Tuberous sclerosis complex Turner U Urea cycle disorders Urogenital adysplasia Usher V Van der Woude Vater association Von Hippel-Lindau Von Willebrand disease W Waardenburg Walker-Warburg Weaver Weissenbacher-Zweymuller Werner Williams Wilson disease Wiskott-Aldrich Wolf-Hirschhorn Wolman disease X X-linked hydrocephaly X-linked mental retardation Xeroderma pigmentosum XX male XYY Z Zellweger Zygote x