Atlas of Genetic Diagnosis and Counseling on CD-ROM

Acardia Achondrogenesis Achondroplasia Adams-Oliver Syndrome Agnathia Aicardi Syndrome Alagille Syndrome Albinism Amniotic Band Syndrome Androgen Insensitivity Syndrome Angelman Syndrome Apert Syndrome Aplasia Cutis Congenita Arthrogryposis Multiplex Congenita Asphyxiating Thoracic Dystrophy Ataxia Telangiectasia Atelosteogenesis Autism Beckwith-Wiedemann Syndrome Behcet Disease Bladder Exstrophy Body Stalk Anomaly Branchial Cleft Anomalies Campomelic Dysplasia Cat Eye Syndrome Cerebro-Costo-Mandibular Syndrome Charcot-Marie-Tooth Disease CHARGE Association Cherubism Chiari Malformation Chondrodysplasia Punctata Chromosome Abnormalities in Pediatric Solid Tumors Cleft Lip and/or Cleft Palate Cleidocranial Dysplasia Cloacal Exstrophy Collodion Baby Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Congenital Cutis Laxa Congenital Cytomegalovirus Infection Congenital Generalized Lipodystrophy Congenital Hydrocephalus Congenital Hypothyroidism Congenital Muscular Dystrophy Congenital Toxoplasmosis Conjoined Twins Corpus Callosum Agenesis/Dysgenesis Craniometaphyseal Dysplasia Cri-Du-Chat Syndrome Crouzon Syndrome Cystic Fibrosis Dandy-Walker Malformation De Lange Syndrome Del(22q11.2) Syndromes Diabetic Embryopathy Down Syndrome Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic Dysplasia Dysmelia (Limb Deficiency/Reduction) Dysplasia Epiphysealis Hemimelica Dystonia Dystrophinopathies Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome Ehlers-Danlos Syndrome Ellis-van Creveld Syndrome Enchondromatosis (Maffucci Syndrome; Ollier Syndrome) Epidermolysis Bullosa Epidermolytic Palmoplantar Keratoderma Faciogenital (Aarskog) Dysplasia Facioscapulohumeral Muscular Dystrophy Familial Adenomatous Polyposis Familial Hyperlysinemia Fanconi Anemia Femoral Hypoplasia-Unusual Facies Syndrome Fetal Akinesia Syndrome Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fibrodysplasia Ossificans Progressiva Finlay-Marks Syndrome Fragile X Syndrome Fraser Syndrome Freeman-Sheldon Syndrome Frontonasal Dysplasia Galactosemia Gastroschisis Gaucher Disease Generalized Arterial Calcification of Infancy Glucose-6-Phosphate Dehydrogenase Deficiency Glycogen Storage Disease, Type II Goldenhar Syndrome Hallermann-Streiff Syndrome Harlequin Ichthyosis (Harlequin Fetus) Hemophilia A Hereditary Hemochromatosis Hereditary Multiple Exostoses Holoprosencephaly Holt-Oram Syndrome Hydrops Fetalis Hyper-IgE Syndrome Hypochondroplasia Hypoglossia-Hypodactylia Syndrome Hypohidrotic Ectodermal Dysplasia Hypomelanosis of Ito Hypophosphatasia Incontinentia Pigmenti Infantile Myofibromatosis Ivemark Syndrome Jarcho-Levin Syndrome Kabuki Syndrome Kasabach-Merritt Syndrome KID Syndrome Klinefelter Syndrome Klippel-Feil Syndrome Klippel-Trenaunay Syndrome Kniest Dysplasia Larsen Syndrome LEOPARD Syndrome Lesch-Nyhan Syndrome Lethal Multiple Pterygium Syndrome Lowe Syndrome Marfan Syndrome McCune-Albright Syndrome Meckel-Gruber Syndrome Menkes Disease (Kinky-Hair Syndrome) Metachromatic Leukodystrophy Miller-Dieker Syndrome Mobius Syndrome Mucolipidosis II (I-Cell Disease) Mucolipidosis III (Pseudo-Hurler Polydystrophy) Mucopolysaccharidosis I (MPS I) (a-L-Iduronidase Deficiency): Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) Syndromes Mucopolysaccharidosis II (Hunter Syndrome) Mucopolysaccharidosis III (Sanfilippo Syndrome) Mucopolysaccharidosis IV (Morquio Syndrome) Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) Multiple Epiphyseal Dysplasia Multiple Pterygium Syndrome Myotonic Dystrophy Type 1 Netherton Syndrome Neu-Laxova Syndrome Neural Tube Defects Neurofibromatosis I Noonan Syndrome Oblique Facial Cleft Syndrome Oligohydramnios Sequence Omphalocele Osteogenesis Imperfecta Osteopetrosis Pachyonychia Congenita Pallister-Killian Syndrome Phenylketonuria (PKU) Pierre Robin Sequence Polycystic Kidney Disease, Autosomal Dominant Type Polycystic Kidney Disease, Autosomal Recessive Type Prader-Willi Syndrome Progeria Prune Belly Syndrome Pseudoachondroplasia R(18) Syndrome Retinoid Embryopathy Rett Syndrome Rickets Roberts Syndrome Robinow Syndrome Rubinstein-Taybi Syndrome Schizencephaly Schmid Metaphyseal Chondrodysplasia Seckel Syndrome Severe Combined Immune Deficiency Short Rib Polydactyly Syndromes Sickle Cell Disease Silver-Russell Syndrome Sirenomelia Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Sotos Syndrome Spinal Muscular Atrophy Spondyloepiphyseal Dysplasia Stickler Syndrome Sturge-Weber Syndrome Tay-Sachs Disease Tetrasomy 9p Syndrome Thalassemia Thanatophoric Dysplasia Thrombocytopenia-Absent Radius Syndrome Treacher-Collins Syndrome Trimethylaminuria Triploidy Trismus Pseudocamptodactyly Syndrome Trisomy 13 Syndrome Trisomy 18 Syndrome Tuberous Sclerosis Turner Syndrome Twin-Twin Transfusion Syndrome Ulnar-Mammary Syndrome VATER (VACTERL) Association Von Hippel-Lindau Disease Waardenburg Syndrome Williams Syndrome Wolf-Hirschhorn Syndrome X-Linked Ichthyosis XXX Syndrome XXXXX Syndrome XXXXY Syndrome XY Female XYY Syndrome