Genetics/Birth Defects

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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 Head and Brain Malformations
• Ataxia see Friedreich's Ataxia
• Ataxia Telangiectasia
• Birth Defects

• Blood Coagulation Disorders see Hemophilia
• Brain Disorders, Inborn Genetic see Genetic Brain Disorders
• Brain Malformations see Head and Brain Malformations
• Canavan Disease see Leukodystrophies
• Cerebral Palsy

• Cleft Lip and Palate
• Cloning
• Color Blindness
• Congenital Heart Disease
• Cystic Fibrosis

• Charcot-Marie-Tooth Disease
• Chorionic Villi Sampling see Prenatal Testing
• Dandy-Walker Syndrome see Head and Brain Malformations
• Down Syndrome
• Duchenne Muscular Dystrophy see Muscular Dystrophy

• Dwarfism
• Ehlers-Danlos Syndrome
• Family Medical History see Genetic Counseling
• Fetal Alcohol Syndrome
• 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
• Head and Brain Malformations

• Heart Defects see Congenital Heart Disease
• Heart Diseases, Congenital see Congenital Heart Disease
• Heart Murmur see Congenital Heart Disease
• Hemochromatosis
• Hemophilia

• Hepatolenticular Degeneration see Wilson Disease
• Human Genome Project see Genes and Gene Therapy
• Huntington's Disease
• Hydrocephalus
• Hypermobility Syndrome see Ehlers-Danlos Syndrome

• Klinefelter's Syndrome
• Leukodystrophies
• Maple Syrup Urine Disease see Genetic Brain Disorders
• Marfan Syndrome
• Metabolic Disorders

• Mucolipidoses see Metabolic Disorders
• Mucopolysaccharidoses see Metabolic Disorders
• Muscular Dystrophy
• Neural Tube Defects
• Neurofibromatosis

• Newborn Screening
• Niemann-Pick Disease see Genetic Brain Disorders
• Osteogenesis Imperfecta
• Paternity Testing see Genetic Testing
• Phenylketonuria

• PKU see Phenylketonuria
• Prader-Willi Syndrome
• Prenatal Testing
• Progeria see Genetic Disorders
• Rare Diseases

• Rett Syndrome
• Sickle Cell Anemia
• Spina Bifida
• Spinal Muscular Atrophy
• Tay-Sachs Disease

• Tourette Syndrome
• Tuberous Sclerosis
• Turner's Syndrome
• Usher Syndrome
• Von Hippel-Lindau Disease

• von Recklinghausen's Disease see Neurofibromatosis
• Wilson Disease

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