Genetics/Birth Defects

• Abnormalities see Birth Defects
• Achondroplasia see Dwarfism
• Adrenoleukodystrophy see Leukodystrophies
• Alpha-1 Antitrypsin Deficiency
• Amniocentesis see Prenatal Testing
• Anencephaly see Neural Tube Defects
• Arnold-Chiari Malformation see Neural Tube Defects
• Ataxia see Friedreich's Ataxia
• Ataxia Telangiectasia
• Birth Defects
• Blood Coagulation Disorders see Hemophilia
• Brain Disorders, Inborn Genetic see Genetic Brain Disorders
• Brain Malformations
• Canavan Disease see Leukodystrophies
• Cephalic Disorders see Brain Malformations
• Cerebral Palsy
• Charcot-Marie-Tooth Disease
• Chorionic Villi Sampling see Prenatal Testing
• Cleft Lip and Palate
• Cleft Spine see Spina Bifida
• Cloning
• Color Blindness
• Congenital Heart Defects
• Copper Storage Disease see Wilson Disease
• Craniofacial Abnormalities
• Craniosynostosis see Brain Malformations; Craniofacial Abnormalities
• Cystic Fibrosis
• Dandy-Walker Syndrome see Brain Malformations
• Down Syndrome
• Duchenne Muscular Dystrophy see Muscular Dystrophy
• Dwarfism
• Ehlers-Danlos Syndrome
• Family History
• FAS see Fetal Alcohol Spectrum Disorders
• Fetal Alcohol Spectrum Disorders
• Fetal Alcohol Syndrome see Fetal Alcohol Spectrum Disorders
• Fetal Ultrasound see Prenatal Testing
• Fragile X Syndrome
• FRAXA see Fragile X Syndrome
• Friedreich's Ataxia
• Gaucher's Disease
• Genes and Gene Therapy
• Genetic Brain Disorders
• Genetic Counseling
• Genetic Disorders
• Genetic Testing
• Heart Defects see Congenital Heart Defects
• Heart Diseases, Congenital see Congenital Heart Defects
• Heart Murmur see Congenital Heart Defects
• Hemochromatosis
• Hemoglobin SS Disease see Sickle Cell Anemia
• Hemophilia
• Hepatolenticular Degeneration see Wilson Disease
• Human Genome Project see Genes and Gene Therapy
• Huntington's Disease
• Hydrocephalus
• Hypermobility Syndrome see Ehlers-Danlos Syndrome
• Iron Overload Disease see Hemochromatosis
• Klinefelter's Syndrome
• Leukodystrophies
• Maple Syrup Urine Disease see Genetic Brain Disorders
• Marfan Syndrome
• Medicines and Pregnancy see Pregnancy and Medicines
• Metabolic Disorders
• Mucolipidoses see Metabolic Disorders
• Mucopolysaccharidoses see Metabolic Disorders
• Muscular Dystrophy
• Myelomeningocele see Spina Bifida
• Neural Tube Defects
• Neurofibromatosis
• Newborn Screening
• Niemann-Pick Disease see Genetic Brain Disorders
• Open Spine see Spina Bifida
• Osteogenesis Imperfecta
• Paternity Testing see Genetic Testing
• Phenylketonuria
• PKU see Phenylketonuria
• Positional Plagiocephaly see Craniofacial Abnormalities
• Prader-Willi Syndrome
• Pregnancy and Medicines
• Prenatal Testing
• Progeria see Genetic Disorders
• Rare Diseases
• Rett Syndrome
• Screening, Newborn see Newborn Screening
• Sickle Cell Anemia
• Sickle Cell Disease see Sickle Cell Anemia
• SMA see Spinal Muscular Atrophy
• Spina Bifida
• Spinal Muscular Atrophy
• Tay-Sachs Disease
• Tourette Syndrome
• Treacher-Collins Syndrome see Craniofacial Abnormalities
• Trisomy 21 see Down Syndrome
• TSC see Tuberous Sclerosis
• Tuberous Sclerosis
• Turner Syndrome
• Usher Syndrome
• VHL see Von Hippel-Lindau Disease
• Von Hippel-Lindau Disease
• von Recklinghausen's Disease see Neurofibromatosis
• Wilson Disease